Browsing Diseases
Displaying diseases 576 - 600 of 660 in total
Rheumatoid arthritis (180300 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Pyridoxal 5'-phosphate (HMDB0001491) | Blood | 0.024 (0.019-0.031) uM | Abnormal | Adult (>18 years old) | Both | details |
| Folic acid (HMDB0000121) | Blood | 0.023 (0.019-0.028) uM | Abnormal | Adult (>18 years old) | Both | details |
| Pyridinoline (HMDB0000851) | Blood | 0.0016 (0.0010-0.0039) uM | Abnormal | Adult (>18 years old) | Both | details |
| 5-HETE (HMDB0011134) | Blood | 0.600 +/- 0.097 uM | Abnormal | Adult (>18 years old) | Both | details |
| Folic acid (HMDB0000121) | Blood | 0.023 (0.020-0.026) uM | Abnormal | Adult (>18 years old) | Both | details |
| Hypoxanthine (HMDB0000157) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| alpha-D-Glucose (HMDB0003345) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Phenylalanine (HMDB0000159) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| L-Alanine (HMDB0000161) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Proline (HMDB0000162) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| L-Threonine (HMDB0000167) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Propionic acid (HMDB0000237) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Taurine (HMDB0000251) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Uridine diphosphate glucose (HMDB0000286) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| D-Glucose (HMDB0000122) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Leucine (HMDB0000687) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Ketoleucine (HMDB0000695) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Methionine (HMDB0000696) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| L-Valine (HMDB0000883) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Citrulline (HMDB0000904) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| L-Tryptophan (HMDB0000929) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Methanol (HMDB0001875) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Fumaric acid (HMDB0000134) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Choline (HMDB0000097) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Butyric acid (HMDB0000039) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Formic acid (HMDB0000142) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| 6-Keto-prostaglandin F1a (HMDB0002886) | Urine | 0.00000035 (0.00000033-0.00000037) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Dehydroepiandrosterone (HMDB0000077) | Urine | 0.00032 +/- 0.000065 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Dehydroepiandrosterone (HMDB0000077) | Urine | 0.00066 +/- 0.00021 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Dehydroepiandrosterone sulfate (HMDB0001032) | Urine | 0.28 +/- 0.082 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Dehydroepiandrosterone sulfate (HMDB0001032) | Urine | 0.84 +/- 0.51 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Androstenedione (HMDB0000053) | Urine | 0.0017 +/- 0.00034 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Androstenedione (HMDB0000053) | Urine | 0.0025 +/- 0.00071 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Urine | 0.00065 +/- 0.00011 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Urine | 0.00077 +/- 0.0002 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Cortisone (HMDB0002802) | Urine | 0.0039 +/- 0.0012 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Cortisone (HMDB0002802) | Urine | 0.0070 +/- 0.0014 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Cortisol (HMDB0000063) | Urine | 0.026 +/- 0.011 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Cortisol (HMDB0000063) | Urine | 0.0052 +/- 0.001 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Rhinitis (607154 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 5-HETE (HMDB0011134) | Blood | 0.787 +/- 0.056 uM | Abnormal | Adult (>18 years old) | Both | details |
Rhizomelic chondrodysplasia punctata (215100 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Pipecolic acid (HMDB0000070) | Blood | 4.1 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Coprocholic acid (HMDB0000601) | Blood | 0.013 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Pristanic acid (HMDB0000795) | Blood | 0.61 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Phytanic acid (HMDB0000801) | Blood | 197 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Docosahexaenoic acid (HMDB0002183) | Blood | 135.43 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Hexacosanoic acid (HMDB0002356) | Blood | 1.33 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| 3beta,7alpha-Dihydroxy-5-cholestenoate (HMDB0012454) | Blood | 0.005 uM | Abnormal | Newborn (0-30 days old) | Female | details |
Ribose-5-phosphate isomerase deficiency (608611 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Ribitol (HMDB0000508) | Blood | 20.0 (6.0–35.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Xylulose (HMDB0001644) | Blood | 7.5 (5.0-10.0) uM | Abnormal | Adolescent (13-18 years old) | Both | details |
| myo-Inositol (HMDB0000211) | Blood | 20.0 (23.0–24.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Mannitol (HMDB0000765) | Blood | 2.0 (0.0-5.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Xylulose (HMDB0000751) | Blood | 5.0 (0.0-10.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Arabitol (HMDB0001851) | Blood | 110.0 (32.0–198.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Threitol (HMDB0004136) | Blood | 6.5 (5.0-8.0) uM | Abnormal | Adolescent (13-18 years old) | Both | details |
| L-Arabinose (HMDB0000646) | Blood | 3.0 (0.0-7.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Ribose (HMDB0000283) | Blood | 2.4 (0.0-5.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Xylitol (HMDB0002917) | Blood | 2.5 (0.0-5.0) uM | Abnormal | Adolescent (13-18 years old) | Both | details |
| D-Arabitol (HMDB0000568) | Blood | 115 (32 - 198) uM | Abnormal | Adolescent (13-18 years old) | Male | details |
| D-Arabitol (HMDB0000568) | Cerebrospinal Fluid (CSF) | 3342-5535 uM | Abnormal | Adolescent (13-18 years old) | Both | details |
| Erythritol (HMDB0002994) | Cerebrospinal Fluid (CSF) | 0.0 - 5.0 uM | Abnormal | Adolescent (13-18 years old) | Both | details |
| D-Threitol (HMDB0004136) | Cerebrospinal Fluid (CSF) | 29 - 67 uM | Abnormal | Adolescent (13-18 years old) | Both | details |
| D-Xylitol (HMDB0002917) | Cerebrospinal Fluid (CSF) | 33 - 96 uM | Abnormal | Adolescent (13-18 years old) | Both | details |
| L-Arabinose (HMDB0000646) | Cerebrospinal Fluid (CSF) | 92.0 (66.0-135.0) uM | Abnormal | Children (1-13 years old) | Both | details |
| D-Ribose (HMDB0000283) | Cerebrospinal Fluid (CSF) | 90.0 (47.0 - 146.0) uM | Abnormal | Adolescent (13-18 years old) | Both | details |
| D-Xylulose (HMDB0001644) | Cerebrospinal Fluid (CSF) | 88 - 166 uM | Abnormal | Adolescent (13-18 years old) | Both | details |
| L-Arabitol (HMDB0001851) | Urine | 1300.0 (1021.0-1612.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| D-Threitol (HMDB0004136) | Urine | 55.0 (38.0 - 81.0) umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Both | details |
| D-Ribose (HMDB0000283) | Urine | 50.0 (5.0 - 102.0) umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Both | details |
| D-Xylulose (HMDB0001644) | Urine | 39 - 52 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Both | details |
| L-Arabinose (HMDB0000646) | Urine | 38.0 (37.0-41.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| D-Xylitol (HMDB0002917) | Urine | 15 - 34 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Not Specified | details |
| D-Arabitol (HMDB0000568) | Urine | 1021 - 1612 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Ribitol (HMDB0000508) | Urine | 154.5 (123.0-186.0) umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
Saccharopinuria (268700 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Isoleucine (HMDB0000172) | Blood | 103 uM | Abnormal | Children (1-13 years old) | Female | details |
Salla disease (604369 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| N-Acetylneuraminic acid (HMDB0000230) | Urine | 64.4 (31.7-225.4) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Neuraminic acid (HMDB0000830) | Urine | 78.269-275.000 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Sarcoma
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 5-Aminoimidazole-4-carboxamide (HMDB0003192) | Blood | 5.55 (0.79 - 39.67) uM | Abnormal | Adult (>18 years old) | Both | details |
Sarcosinemia (268900 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Sarcosine (HMDB0000271) | Blood | 300.0 (80.0-603.0) uM | Abnormal | Children (1-13 years old) | Both | details |
| Glycine (HMDB0000123) | Blood | 354.6 uM | Abnormal | Infant (0-1 year old) | Female | details |
| Glycine (HMDB0000123) | Blood | 254-310 uM | Abnormal | Adult (>18 years old) | Male | details |
| Serine (HMDB0000187) | Blood | 222.4 uM | Abnormal | Infant (0-1 year old) | Female | details |
| Serine (HMDB0000187) | Blood | 116-145 uM | Abnormal | Adult (>18 years old) | Male | details |
| Sarcosine (HMDB0000271) | Blood | 654.1 uM | Abnormal | Infant (0-1 year old) | Female | details |
| Sarcosine (HMDB0000271) | Blood | 200-300 uM | Abnormal | Children (1-13 years old) | Female | details |
| Sarcosine (HMDB0000271) | Blood | 238-379 uM | Abnormal | Adult (>18 years old) | Male | details |
| Sarcosine (HMDB0000271) | Cerebrospinal Fluid (CSF) | 5-17 uM | Abnormal | Children (1-13 years old) | Male | details |
| Sarcosine (HMDB0000271) | Cerebrospinal Fluid (CSF) | 7-12 uM | Abnormal | Adult (>18 years old) | Male | details |
| Serine (HMDB0000187) | Cerebrospinal Fluid (CSF) | 28-32 uM | Abnormal | Adult (>18 years old) | Male | details |
| Glycine (HMDB0000123) | Cerebrospinal Fluid (CSF) | 6-7 uM | Abnormal | Adult (>18 years old) | Male | details |
| Glycine (HMDB0000123) | Urine | 972.85 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Glycine (HMDB0000123) | Urine | 198-419 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| Serine (HMDB0000187) | Urine | 147.06 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Serine (HMDB0000187) | Urine | 38-77 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| Sarcosine (HMDB0000271) | Urine | 361.333 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| Sarcosine (HMDB0000271) | Urine | 2703.95 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Sarcosine (HMDB0000271) | Urine | 631-1214 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
SC4MOL deficiency (616834 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Cholesterol (HMDB0000067) | Blood | 2198.351-2405.254 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
Schistosomiasis
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Tuftsin (HMDB0005770) | Blood | 0.66 +/- 0.05 uM | Abnormal | Children (1-13 years old) | Both | details |
Schizophrenia (181500 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Homovanillic acid (HMDB0000118) | Blood | 0.062 +/- 0.022 uM | Abnormal | Adult (>18 years old) | Male | details |
| Homovanillic acid (HMDB0000118) | Blood | 0.071 +/- 0.022 uM | Abnormal | Adult (>18 years old) | Female | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Blood | 0.0475 +/- 0.0130 uM | Abnormal | Adult (>18 years old) | Male | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Blood | 0.0449 +/- 0.0140 uM | Abnormal | Adult (>18 years old) | Female | details |
| Vanylglycol (HMDB0001490) | Blood | 0.0237 +/- 0.011 uM | Abnormal | Adult (>18 years old) | Male | details |
| Vanylglycol (HMDB0001490) | Blood | 0.0232 +/- 0.0063 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Tyrosine (HMDB0000158) | Blood | 91.2 +/- 30.0 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Tyrosine (HMDB0000158) | Blood | 73.0 +/- 20.0 uM | Abnormal | Adult (>18 years old) | Female | details |
| L-Tryptophan (HMDB0000929) | Blood | 83.3 +/- 26.0 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Tryptophan (HMDB0000929) | Blood | 80.2 +/- 22.0 uM | Abnormal | Adult (>18 years old) | Female | details |
| Glutamic acid (HMDB0000148) | Blood | 32.7 +/- 18.0 uM | Abnormal | Adult (>18 years old) | Male | details |
| Glutamic acid (HMDB0000148) | Blood | 34.7 +/- 26.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| Glutamine (HMDB0000641) | Blood | 650.0 +/- 98.0 uM | Abnormal | Adult (>18 years old) | Male | details |
| Glutamine (HMDB0000641) | Blood | 673.0 +/- 96.0 uM | Abnormal | Adult (>18 years old) | Female | details |
| D-Glutamic acid (HMDB0003339) | Blood | 156.0 +/- 90.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| Cortisol (HMDB0000063) | Blood | 10.55 +/- 1.93 uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Serine (HMDB0003406) | Blood | 1.86 +/- 0.53 uM | Abnormal | Adult (>18 years old) | Both | details |
| Serine (HMDB0000187) | Blood | 197.9 +/- 46.4 uM | Abnormal | Adult (>18 years old) | Both | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 17.6 +/- 3.84 uM | Abnormal | Adult (>18 years old) | Both | details |
| Arachidonic acid (HMDB0001043) | Blood | 38.5 +/- 2.18 uM | Abnormal | Adult (>18 years old) | Both | details |
| Linoleic acid (HMDB0000673) | Blood | 159 +/- 12.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Serine (HMDB0003406) | Blood | 1.57 +/- 0.07 uM | Abnormal | Adult (>18 years old) | Both | details |
| Betaine (HMDB0000043) | Blood | 43.00 +/- 12.34 uM | Abnormal | Adult (>18 years old) | Both | details |
| Creatine (HMDB0000064) | Blood | 43.2 +/- 18.10 uM | Abnormal | Adult (>18 years old) | Both | details |
| gamma-Glutamylcysteine (HMDB0001049) | Blood | 2.07 +/- 0.12 uM | Abnormal | Adult (>18 years old) | Both | details |
| Glutathione (HMDB0000125) | Blood | 516.50 +/- 238.40 uM | Abnormal | Adult (>18 years old) | Both | details |
| Glutathione (HMDB0000125) | Blood | 3.03 +/- 0.149 uM | Abnormal | Adult (>18 years old) | Both | details |
| Oxidized glutathione (HMDB0003337) | Blood | 27.94 +/- 23.19 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Tryptophan (HMDB0000929) | Blood | 101 +/- 4.48 uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Lactic acid (HMDB0001311) | Blood | 13.1 +/- 1.42 uM | Abnormal | Adult (>18 years old) | Both | details |
| Gluconic acid (HMDB0000625) | Blood | 3.732 +/- 0.687 uM | Abnormal | Adult (>18 years old) | Both | details |
| Taurine (HMDB0000251) | Blood | 67 +/- 20 uM | Abnormal | Adult (>18 years old) | Male | details |
| Taurine (HMDB0000251) | Blood | 68 +/- 14 uM | Abnormal | Adult (>18 years old) | Female | details |
| Serotonin (HMDB0000259) | Blood | 0.61 +/- 0.096 uM | Abnormal | Adult (>18 years old) | Both | details |
| Kynurenine (HMDB0000684) | Blood | 2.35 +/- 0.162 uM | Abnormal | Adult (>18 years old) | Both | details |
| Glutamic acid (HMDB0000148) | Blood | 71.3 +/- 12.3 uM | Abnormal | Adult (>18 years old) | Both | details |
| Glutamic acid (HMDB0000148) | Blood | 77.93 +/- 39.86 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Alanine (HMDB0000161) | Blood | 392 +/- 111 uM | Abnormal | Adult (>18 years old) | Male | details |
| Histidine (HMDB0000177) | Blood | 84 +/- 11 uM | Abnormal | Adult (>18 years old) | Male | details |
| Histidine (HMDB0000177) | Blood | 84 +/- 14 uM | Abnormal | Adult (>18 years old) | Female | details |
| Isoleucine (HMDB0000172) | Blood | 77 +/- 14 uM | Abnormal | Adult (>18 years old) | Male | details |
| Isoleucine (HMDB0000172) | Blood | 64 +/- 15 uM | Abnormal | Adult (>18 years old) | Female | details |
| Leucine (HMDB0000687) | Blood | 171 +/- 30 uM | Abnormal | Adult (>18 years old) | Male | details |
| Leucine (HMDB0000687) | Blood | 141 +/- 26 uM | Abnormal | Adult (>18 years old) | Female | details |
| Lysine (HMDB0000182) | Blood | 206 +/- 29 uM | Abnormal | Adult (>18 years old) | Male | details |
| Lysine (HMDB0000182) | Blood | 186 +/- 28 uM | Abnormal | Adult (>18 years old) | Female | details |
| Methionine (HMDB0000696) | Blood | 27 +/- 7 uM | Abnormal | Adult (>18 years old) | Male | details |
| Methionine (HMDB0000696) | Blood | 26 +/- 7 uM | Abnormal | Adult (>18 years old) | Female | details |
| L-Valine (HMDB0000883) | Blood | 273 +/- 45 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Valine (HMDB0000883) | Blood | 232 +/- 44 uM | Abnormal | Adult (>18 years old) | Female | details |
| Phenylalanine (HMDB0000159) | Blood | 64 +/- 8 uM | Abnormal | Adult (>18 years old) | Male | details |
| Phenylalanine (HMDB0000159) | Blood | 57 +/- 8 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| L-Tyrosine (HMDB0000158) | Blood | 57.2 +/- 3.33 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Threonine (HMDB0000167) | Blood | 111 +/- 10.3 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Tryptophan (HMDB0000929) | Blood | 63.51 +/- 2.04 uM | Abnormal | Adult (>18 years old) | Both | details |
| Stearic acid (HMDB0000827) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 2-Hydroxybutyric acid (HMDB0000008) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Palmitic acid (HMDB0000220) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Malic acid (HMDB0000156) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Serine (HMDB0000187) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Cystine (HMDB0000192) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pyroglutamic acid (HMDB0000267) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-alpha-Aminobutyric acid (HMDB0000452) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| D-Aspartic acid (HMDB0006483) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Oxoglutaric acid (HMDB0000208) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Citric acid (HMDB0000094) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Lactic acid (HMDB0000190) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pyruvic acid (HMDB0000243) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Stearic acid (HMDB0000827) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Linoleic acid (HMDB0000673) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Oleic acid (HMDB0000207) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Palmitic acid (HMDB0000220) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Cholesterol (HMDB0000067) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| gamma-Tocopherol (HMDB0001492) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Glycine (HMDB0000123) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Aspartic acid (HMDB0000191) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| N-Acetyl-L-aspartic acid (HMDB0000812) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Tryptophan (HMDB0000929) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Oxoglutaric acid (HMDB0000208) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Citric acid (HMDB0000094) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Lactic acid (HMDB0000190) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Erythrose (HMDB0002649) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Glyceric acid 1,3-biphosphate (HMDB0001270) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Glycerol (HMDB0000131) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| myo-Inositol (HMDB0000211) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Uric acid (HMDB0000289) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Cortisol (HMDB0000063) | Blood | 0.326 +/- 0.090 uM | Abnormal | Adult (>18 years old) | Both | details |
| 13,14-Dihydro-15-keto-PGE2 (HMDB0002776) | Blood | 0.000224 +/- 0.000057 uM | Abnormal | Adult (>18 years old) | Both | details |
| Malondialdehyde (HMDB0006112) | Blood | 4.76 +/- 0.79 uM | Abnormal | Adult (>18 years old) | Both | details |
| Vanylglycol (HMDB0001490) | Blood | 0.021 +/- 0.007 uM | Abnormal | Adult (>18 years old) | Both | details |
| N-Acetylserotonin (HMDB0001238) | Blood | 0.011 uM | Abnormal | Adult (>18 years old) | Both | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| PC(16:0/18:2(9Z,12Z)) (HMDB0007973) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| LysoPC(16:0/0:0) (HMDB0010382) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| LysoPC(18:0/0:0) (HMDB0010384) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| LysoPC(18:1(11Z)/0:0) (HMDB0010385) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| LysoPC(18:2/0:0) (HMDB0010386) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Glycine (HMDB0000123) | Blood | Not Quantified | Disease | Adult (>18 years old) | Both | details |
| L-Alanine (HMDB0000161) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Acetoacetic acid (HMDB0000060) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Lactic acid (HMDB0000190) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Uric acid (HMDB0000289) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 3-Indolebutyric acid (HMDB0002096) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pelargonic acid (HMDB0000847) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Perillic acid (HMDB0004586) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Benzoic acid (HMDB0001870) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Imidazolelactic acid (HMDB0002320) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Cyclohexylamine (HMDB0031404) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Arachidic acid (HMDB0002212) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Heptadecanoic acid (HMDB0002259) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Oleic acid (HMDB0000207) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pentadecanoic acid (HMDB0000826) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Cholesterol (HMDB0000067) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pipecolic acid (HMDB0000070) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 20alpha-Dihydroprogesterone (HMDB0003069) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| 3b,17b-Dihydroxyetiocholane (HMDB0000369) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| 5a-Pregnane-3,20-dione (HMDB0003759) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Alloepipregnanolone (HMDB0001455) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Alloepipregnanolone (HMDB0001455) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Androstenedione (HMDB0000053) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Androsterone (HMDB0000031) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Cortisol (HMDB0000063) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Dehydroepiandrosterone sulfate (HMDB0001032) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| 5alpha-Androstane-3beta,17beta-diol (HMDB0000493) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Epiandrosterone (HMDB0000365) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Epietiocholanolone (HMDB0000546) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Epietiocholanolone (HMDB0000546) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Epipregnanolone (HMDB0001471) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Etiocholanolone (HMDB0000490) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Etiocholanolone (HMDB0000490) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Pregnenolone (HMDB0000253) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Pregnenolone (HMDB0000253) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Pregnenolone sulfate (HMDB0000774) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Pregnenolone sulfate (HMDB0000774) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Progesterone (HMDB0001830) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Progesterone (HMDB0001830) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Testosterone (HMDB0000234) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| PC(O-38:6) (HMDB0013409) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Arginine (HMDB0000517) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Glutamine (HMDB0000641) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Histidine (HMDB0000177) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Ornithine (HMDB0000214) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Phosphatidylethanolamine (HMDB0060501) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| D-Glucose (HMDB0000122) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| D-Glucose (HMDB0000122) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| LysoPC(16:0/0:0) (HMDB0010382) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| LysoPC(18:0/0:0) (HMDB0010384) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 11Z-Eicosenoic acid (HMDB0002231) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Myristic acid (HMDB0000806) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Glutamic acid (HMDB0000148) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Aspartic acid (HMDB0000191) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Glutamine (HMDB0000641) | Blood | 572 +/- 116 uM | Abnormal | Adult (>18 years old) | Male | details |
| Glyceric acid (HMDB0000139) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Allantoin (HMDB0000462) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.21 +/- 0.035 uM | Abnormal | Adult (>18 years old) | Female | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.19 +/- 0.030 uM | Abnormal | Adult (>18 years old) | Female | details |
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 0.05 +/- 0.002 uM | Abnormal | Adult (>18 years old) | Female | details |
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 0.04 +/- 0.002 uM | Abnormal | Adult (>18 years old) | Female | details |
| p-Hydroxyphenylacetic acid (HMDB0000020) | Cerebrospinal Fluid (CSF) | 0.31 +/- 0.0.03 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 5-Hydroxytryptophol (HMDB0001855) | Cerebrospinal Fluid (CSF) | 0.11 +/- 0.013 uM | Abnormal | Adult (>18 years old) | Female | details |
| N2-gamma-Glutamylglutamine (HMDB0011738) | Cerebrospinal Fluid (CSF) | 2.07 +/- 0.52 uM | Abnormal | Adult (>18 years old) | Both | details |
| N-Acetyl-L-aspartic acid (HMDB0000812) | Cerebrospinal Fluid (CSF) | 0.80 +/- 0.62 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Alanine (HMDB0000161) | Cerebrospinal Fluid (CSF) | 4.04 +/- 0.57 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Asparagine (HMDB0000168) | Cerebrospinal Fluid (CSF) | 6.01 +/- 0.65 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Aspartic acid (HMDB0000191) | Cerebrospinal Fluid (CSF) | 0.24 +/- 0.10 uM | Abnormal | Adult (>18 years old) | Both | details |
| Citrulline (HMDB0000904) | Cerebrospinal Fluid (CSF) | 5.38 +/- 0.94 uM | Abnormal | Adult (>18 years old) | Both | details |
| Glutamic acid (HMDB0000148) | Cerebrospinal Fluid (CSF) | 0.32 +/- 0.09 uM | Abnormal | Adult (>18 years old) | Both | details |
| Glycine (HMDB0000123) | Cerebrospinal Fluid (CSF) | 4.5 +/- 0.75 uM | Abnormal | Adult (>18 years old) | Both | details |
| Isoleucine (HMDB0000172) | Cerebrospinal Fluid (CSF) | 6.0 +/- 0.65 uM | Abnormal | Adult (>18 years old) | Both | details |
| Methionine (HMDB0000696) | Cerebrospinal Fluid (CSF) | 2.7 +/- 0.67 uM | Abnormal | Adult (>18 years old) | Both | details |
| Phenylalanine (HMDB0000159) | Cerebrospinal Fluid (CSF) | 4.6 +/- 1.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| Serine (HMDB0000187) | Cerebrospinal Fluid (CSF) | 7.5 +/- 0.87 uM | Abnormal | Adult (>18 years old) | Both | details |
| Taurine (HMDB0000251) | Cerebrospinal Fluid (CSF) | 5.0 +/- 0.86 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Threonine (HMDB0000167) | Cerebrospinal Fluid (CSF) | 9.68 +/- 2.22 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Tryptophan (HMDB0000929) | Cerebrospinal Fluid (CSF) | 2.67 +/- 0.6 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Tyrosine (HMDB0000158) | Cerebrospinal Fluid (CSF) | 7.8 +/- 1.38 uM | Abnormal | Adult (>18 years old) | Both | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.019 +/- 0.0094 uM | Abnormal | Adult (>18 years old) | Both | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.038 +/- 0.016 uM | Abnormal | Adult (>18 years old) | Both | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.00137 (0.000604-0.00225) uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Arginine (HMDB0000517) | Cerebrospinal Fluid (CSF) | 0.00000964 +/- 0.000001244 uM | Abnormal | Adult (>18 years old) | Both | details |
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 42.5 +/- 7.6 uM | Abnormal | Adult (>18 years old) | Both | details |
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 50.3 +/- 7.4 uM | Abnormal | Adult (>18 years old) | Female | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 110 +/- 68.6 uM | Abnormal | Adult (>18 years old) | Male | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 167 +/- 74.5 uM | Abnormal | Adult (>18 years old) | Female | details |
| 1-Methylhistamine (HMDB0000898) | Cerebrospinal Fluid (CSF) | 2.90 +/- 0.27 uM | Abnormal | Adult (>18 years old) | Both | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 1.00 +/- 0.03 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.056 +/- 0.022 uM | Abnormal | Adult (>18 years old) | Both | details |
| Kynurenic acid (HMDB0000715) | Cerebrospinal Fluid (CSF) | 0.00133 +/- 0.00009 uM | Abnormal | Adult (>18 years old) | Male | details |
| 1-Methylhistamine (HMDB0000898) | Cerebrospinal Fluid (CSF) | 0.00290 +/- 0.00027 uM | Abnormal | Adult (>18 years old) | Both | details |
| N-gamma-Glutamylglutamine (HMDB0029147) | Cerebrospinal Fluid (CSF) | 2.07 +/- 0.52 uM | Abnormal | Adult (>18 years old) | Both | details |
| N-Acetylaspartylglutamic acid (HMDB0001067) | Urine | 2.1 +/- 0.9 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 2-Hydroxybutyric acid (HMDB0000008) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 4-Pentenoic acid (HMDB0031602) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Cystine (HMDB0000192) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pyroglutamic acid (HMDB0000267) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Aminoadipic acid (HMDB0000510) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Guanidoacetic acid (HMDB0000128) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-alpha-Aminobutyric acid (HMDB0000452) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Isoleucine (HMDB0000172) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Valine (HMDB0000883) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pipecolic acid (HMDB0000070) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| cis-Aconitic acid (HMDB0000072) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Citric acid (HMDB0000094) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Lactic acid (HMDB0000190) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Glycolic acid (HMDB0000115) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pyrocatechol (HMDB0000957) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pregnanediol (HMDB0004025) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Creatine (HMDB0000064) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Creatinine (HMDB0000562) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Glycine (HMDB0000123) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Valine (HMDB0000883) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Oxoglutaric acid (HMDB0000208) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Citric acid (HMDB0000094) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Taurine (HMDB0000251) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Uric acid (HMDB0000289) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Hippuric acid (HMDB0000714) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Trimethylamine N-oxide (HMDB0000925) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| D-Glucose (HMDB0000122) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| D-Glucose (HMDB0000122) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Epinephrine (HMDB0000068) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Norepinephrine (HMDB0000216) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Dopamine (HMDB0000073) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Suberic acid (HMDB0000893) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Glutamic acid (HMDB0000148) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
Segawa Syndrome (128230 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Biopterin (HMDB0000468) | Cerebrospinal Fluid (CSF) | 20.6 (19.2 - 22.0) uM | Abnormal | Adult (>18 years old) | Not Specified | details |
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) (612780 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Magnesium (HMDB0000547) | Blood | 540-620 uM | Abnormal | Adult (>18 years old) | Female | details |
| Potassium (HMDB0000586) | Blood | 2900-3150 uM | Abnormal | Adult (>18 years old) | Female | details |
| Hydrogen carbonate (HMDB0000595) | Blood | 28000-33000 uM | Abnormal | Adult (>18 years old) | Female | details |
| Potassium (HMDB0000586) | Urine | 16180-38180 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
Sengers syndrome (212350 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | Blood | 3500-14000 uM | Abnormal | Children (1-13 years old) | Both | details |
| 3-Methylglutaconic acid (HMDB0000522) | Urine | 20-488 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Sepiapterin reductase deficiency (182125 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Sepiapterin (HMDB0000238) | Cerebrospinal Fluid (CSF) | 0.0083 (0.0056-0.011) uM | Abnormal | Adult (>18 years old) | Both | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.0585 (0.055-0.062) uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| DOPA (HMDB0000181) | Cerebrospinal Fluid (CSF) | <0.001 uM | Abnormal | Children (1-13 years old) | Male | details |
| Sepiapterin (HMDB0000238) | Cerebrospinal Fluid (CSF) | 0.01375 (0.0075-0.02) uM | Abnormal | Children (1-13 years old) | Male | details |
| Serotonin (HMDB0000259) | Cerebrospinal Fluid (CSF) | <0.002 uM | Abnormal | Children (1-13 years old) | Male | details |
| Biopterin (HMDB0000468) | Cerebrospinal Fluid (CSF) | 0.0376 (0.0281-0.0471) uM | Abnormal | Children (1-13 years old) | Male | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.0045 (0.004-0.005) uM | Abnormal | Children (1-13 years old) | Male | details |
| Neopterin (HMDB0000845) | Cerebrospinal Fluid (CSF) | 0.01175 (0.008-0.0155) uM | Abnormal | Children (1-13 years old) | Male | details |
| 3-Methoxytyrosine (HMDB0001434) | Cerebrospinal Fluid (CSF) | 0.0105 (0.008-0.013) uM | Abnormal | Children (1-13 years old) | Male | details |
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 0.013 (0.012-0.014) uM | Abnormal | Children (1-13 years old) | Male | details |
Sepsis
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| D-Tyrosine (HMDB0250803) | Blood | 108(80-350) uM | Abnormal | Adult (>18 years old) | Both | details |
| Kynurenine (HMDB0000684) | Blood | 12.5(3.5-27) uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Kynurenine (HMDB0250769) | Blood | 12.5(3.5-27) uM | Abnormal | Adult (>18 years old) | Both | details |
| Creatinine (HMDB0000562) | Blood | 200(140-420) uM | Abnormal | Adult (>18 years old) | Both | details |
| Phenylalanine (HMDB0000159) | Blood | 152(100-450) uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Phenylalanine (HMDB0250791) | Blood | 152(100-450) uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Acetylcarnitine (HMDB0000201) | Blood | 11.9(10-40) uM | Abnormal | Adult (>18 years old) | Both | details |
| DL-Acetylcarnitine (HMDB0240773) | Blood | 11.9(10-40) uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Tyrosine (HMDB0000158) | Blood | 108(80-350) uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Tryptophan (HMDB0013609) | Blood | 27.2(8.3-35) uM | Abnormal | Adult (>18 years old) | Both | details |
| LysoPC(17:0/0:0) (HMDB0012108) | Blood | 0.24(0.1-0.8) uM | Abnormal | Adult (>18 years old) | Both | details |
| LysoPC(16:0/0:0) (HMDB0010382) | Blood | 12.7(1-30) uM | Abnormal | Adult (>18 years old) | Both | details |
| LysoPC(18:1(11Z)/0:0) (HMDB0010385) | Blood | 3.1(1.0-6.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| LysoPC(18:1/0:0) (HMDB0002815) | Blood | 3.1(1.0-6.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| LysoPC(18:2/0:0) (HMDB0010386) | Blood | 2.1(0.5-6.5) uM | Abnormal | Adult (>18 years old) | Both | details |
| Methionine sulfoxide (HMDB0002005) | Blood | 2(1.4-18) uM | Abnormal | Adult (>18 years old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 7800(6500-12000) uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Tryptophan (HMDB0000929) | Blood | 27.2(8.3-35) uM | Abnormal | Adult (>18 years old) | Both | details |
| Atorvastatin (HMDB0005006) | Blood | 0.22 +/- 0.16 uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Glucose (HMDB0000122) | Blood | 7800(6500-12000) uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Lactic acid (HMDB0001311) | Blood | 4000(2400-5500) uM | Abnormal | Adult (>18 years old) | Both | details |
| Lactic acid (HMDB0000190) | Blood | 4000(2400-5500) uM | Abnormal | Adult (>18 years old) | Both | details |
| 3,5-Diiodothyronine (HMDB0000582) | Blood | 0.000046 +/- 0.000048 uM | Abnormal | Adult (>18 years old) | Both | details |
| Cortexolone (HMDB0000015) | Feces | Not Quantified | Abnormal | Newborn (0-30 days old) | Both | details |
| Monoethylglycinexylidide (HMDB0060656) | Feces | Not Quantified | Abnormal | Newborn (0-30 days old) | Both | details |
| 10,11-dihydro-leukotriene B4 (HMDB0012504) | Feces | Not Quantified | Abnormal | Newborn (0-30 days old) | Both | details |
| 21-Hydroxy-5b-pregnane-3,11,20-trione (HMDB0006756) | Feces | Not Quantified | Abnormal | Newborn (0-30 days old) | Both | details |
| Acetic acid (HMDB0000042) | Feces | Not Quantified | Abnormal | Newborn (0-30 days old) | Both | details |
| Didemethylcitalopram (HMDB0060472) | Feces | Not Quantified | Abnormal | Newborn (0-30 days old) | Both | details |
| 18-Oxocortisol (HMDB0000332) | Feces | Not Quantified | Abnormal | Newborn (0-30 days old) | Both | details |
| Glutamic acid (HMDB0000148) | Feces | Not Quantified | Abnormal | Newborn (0-30 days old) | Both | details |
| 18-Hydroxycortisol (HMDB0000418) | Feces | Not Quantified | Abnormal | Newborn (0-30 days old) | Both | details |
| Raffinose (HMDB0003213) | Feces | Not Quantified | Abnormal | Newborn (0-30 days old) | Both | details |
| Sucrose (HMDB0000258) | Feces | Not Quantified | Abnormal | Newborn (0-30 days old) | Both | details |
Septic shock
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Adenosine (HMDB0000050) | Blood | 0.126 +/- 0.018 uM | Abnormal | Adult (>18 years old) | Both | details |
| Tetrahydrobiopterin (HMDB0000027) | Blood | 0.16 (0.0-5.8) uM | Abnormal | Adult (>18 years old) | Both | details |
| Tetrahydrobiopterin (HMDB0000027) | Blood | 1.2 (0.8-14.9) uM | Abnormal | Adult (>18 years old) | Both | details |
| Inosine (HMDB0000195) | Blood | 0.19 +/- 0.17 uM uM | Abnormal | Adult (>18 years old) | Both | details |
Serine deficiency syndrome, infantile
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Serine (HMDB0000187) | Cerebrospinal Fluid (CSF) | 6-11 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
Short bowel syndrome
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Ammonia (HMDB0000051) | Blood | 50.4 +/- 17.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| beta-Sitosterol (HMDB0000852) | Blood | 14.1 +/- 10.6 uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Ornithine (HMDB0003374) | Blood | 62.0 +/- 28.0 uM | Abnormal | Adult (>18 years old) | Both | details |
Short Chain Acyl-Coa Dehydrogenase Deficiency
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Methylsuccinic acid (HMDB0001844) | Urine | 22.612-101.754 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Isobutyrylglycine (HMDB0000730) | Urine | 0.0234-1.106 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Ethylmalonic acid (HMDB0000622) | Urine | 34.231-1012.319 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Methylsuccinic acid (HMDB0001844) | Urine | 22.612-101.754 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details |
| Glutaric acid (HMDB0000661) | Urine | 4.522-9.0448 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details |
| Glutaric acid (HMDB0000661) | Urine | 3.392-44.0934 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details |
| Ethylmalonic acid (HMDB0000622) | Urine | 182.0266-1152.0814 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details |
| Butyrylcarnitine (HMDB0002013) | Urine | 0-8.966 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| Methylsuccinic acid (HMDB0001844) | Urine | 6-630 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| Adipic acid (HMDB0000448) | Urine | 0-44.0934 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| N-Butyrylglycine (HMDB0000808) | Urine | 0-3.894 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| Isobutyryl-L-carnitine (HMDB0000736) | Urine | 0 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| Hexanoylglycine (HMDB0000701) | Urine | 0-3.0679 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| Glutaric acid (HMDB0000661) | Urine | 0-9.0448 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Glutaric acid (HMDB0000661) | Urine | 0-18.200 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| Ethylmalonic acid (HMDB0000622) | Urine | 8-3900 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| Ethylmalonic acid (HMDB0000622) | Urine | 182.0266-1152.0814 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Acetylcarnitine (HMDB0000201) | Blood | 26.700 +/- 9.700 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| D-Glucose (HMDB0000122) | Blood | <2600 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 0-380 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| 3-Hydroxybutyrylcarnitine (HMDB0013127) | Blood | 0.180 (0.0600-0.360) uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| L-Acetylcarnitine (HMDB0000201) | Blood | 26.400 +/- 9.700 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| alpha-D-Glucose (HMDB0003345) | Blood | <2600 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
Short/branched chain acyl-CoA dehydrogenase deficiency (610006 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| D-Glucose (HMDB0000122) | Blood | 2800 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| L-Alloisoleucine (HMDB0000557) | Blood | 1.500-2.600 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Valerylcarnitine (HMDB0013128) | Blood | 0.510-2.0800 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Valerylcarnitine (HMDB0013128) | Blood | 0.34 uM | Abnormal | Children (1-13 years old) | Male | details |
| 2-Methylbutyrylglycine (HMDB0000339) | Urine | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 2-Methylbutyrylglycine (HMDB0000339) | Urine | 5.682-21.308 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
| 2-Methylbutyrylglycine (HMDB0000339) | Urine | 0.497-73.227 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
| Isovalerylglycine (HMDB0000678) | Urine | 0.0710-1.0654 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
| 2-Methylbutyrylglycine (HMDB0000339) | Urine | 2-47.200 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| 2-Ethylhydracrylic acid (HMDB0000396) | Urine | 4-31 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Sialidosis, normosomatic type
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| N-Acetylneuraminic acid (HMDB0000230) | Urine | 48.621-60.502 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Sickle cell anemia (603903 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Pyridoxal (HMDB0001545) | Blood | 0.036 +/- 0.031 uM | Abnormal | Adult (>18 years old) | Both | details |
| Homocysteine (HMDB0000742) | Blood | 12.5 +/- 5.0 uM | Abnormal | Adult (>18 years old) | Both | details |
Sitosterolemia (210250 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Campestanol (HMDB0000534) | Blood | 96.9 +/- 4.9 uM | Abnormal | Adult (>18 years old) | Both | details |
| Campesterol (HMDB0002869) | Blood | 601.94 +/- 6.49 uM | Abnormal | Adult (>18 years old) | Both | details |
| Stigmasterol (HMDB0000937) | Blood | 46.8 +/- 1.2 uM | Abnormal | Adult (>18 years old) | Both | details |
| Stigmastanol (HMDB0000494) | Blood | 168.0 +/- 2.8 uM | Abnormal | Adult (>18 years old) | Both | details |
| Isofucosterol (HMDB0002374) | Blood | 106.4 +/- 1.94 uM | Abnormal | Adult (>18 years old) | Both | details |
| beta-Sitosterol (HMDB0000852) | Urine | 0.0021 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |