Browsing Diseases
Aldosteronism (103900 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Aldosterone 18-glucuronide (HMDB0010345) | Urine | 0.0015 (0.00012-0.0030) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Alkaptonuria (203500 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Homogentisic acid (HMDB0000130) | Blood | 35.5 (33.0 - 38.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Homogentisic acid (HMDB0000130) | Blood | 33.33-46.5 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Homogentisic acid (HMDB0000130) | Urine | 1819 (1134 - 2504) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Homogentisic acid (HMDB0000130) | Urine | > 2780 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Homogentisic acid (HMDB0000130) | Urine | 666.085 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Homogentisic acid (HMDB0000130) | Urine | 2100 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Homogentisic acid (HMDB0000130) | Urine | 4690 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Female | details |
| Homogentisic acid (HMDB0000130) | Urine | 5020 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Female | details |
| Homogentisic acid (HMDB0000130) | Urine | >1189.438 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
| Homogentisic acid (HMDB0000130) | Urine | 1570-2220 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Female | details |
| Homogentisic acid (HMDB0000130) | Urine | 1980-2710 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Female | details |
| Homogentisic acid (HMDB0000130) | Urine | >1189.438 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
| Homogentisic acid (HMDB0000130) | Urine | 1746.67-2500.00 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Not Specified | details |
Alpha-1-antitrypsin deficiency (107400 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Glycocholic acid (HMDB0000138) | Blood | 25.9 +/- 24.0 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
Alpha-aminoadipic aciduria
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Aminoadipic acid (HMDB0000510) | Blood | 6.0 (7.0-8.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Aminoadipic acid (HMDB0000510) | Blood | 48.0 uM | Abnormal | Children (1-13 years old) | Both | details |
| Aminoadipic acid (HMDB0000510) | Urine | 13000 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Oxoadipic acid (HMDB0000225) | Urine | 20-120 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Hydroxyadipic acid (HMDB0000321) | Urine | 80-170 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Specified | details |
| Aminoadipic acid (HMDB0000510) | Urine | 240-1910 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Specified | details |
Alpha-aminoadipic and alpha-ketoadipic aciduria
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Lysine (HMDB0000182) | Blood | 82.9 uM | Abnormal | Children (1-13 years old) | Male | details |
| Aminoadipic acid (HMDB0000510) | Blood | 18.7 uM | Abnormal | Children (1-13 years old) | Male | details |
| Lysine (HMDB0000182) | Urine | 3.414 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
| Aminoadipic acid (HMDB0000510) | Urine | 42.612 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
Alpha-Methylacyl-CoA racemase deficiency (614307 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Pristanic acid (HMDB0000795) | Blood | 105 uM | Abnormal | Adult (>18 years old) | Male | details |
| Phytanic acid (HMDB0000801) | Blood | 20 uM | Abnormal | Adult (>18 years old) | Male | details |
Alzheimer's disease (104300 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Ribitol (HMDB0000508) | Blood | 0.55 +/- 0.08 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Cobalt (HMDB0000608) | Blood | 0.0019 +/- 0.0010 uM | Abnormal | Adult (>18 years old) | Both | details |
| 4-Hydroxyproline (HMDB0000725) | Blood | 5.66 +/- 0.67 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Histidine (HMDB0000177) | Blood | 116.68 +/- 18.15 uM | Abnormal | Elderly (>65 years old) | Both | details |
| 1-Methylhistidine (HMDB0000001) | Blood | 10.66 +/- 2.68 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Methylhistidine (HMDB0000479) | Blood | 5.16 +/- 1.27 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Carnosine (HMDB0000033) | Blood | 3.28 +/- 0.91 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Anserine (HMDB0000194) | Blood | 0.457 +/- 0.214 uM | Abnormal | Elderly (>65 years old) | Both | details |
| L-Tryptophan (HMDB0000929) | Blood | 33.06 +/- 8.99 uM | Abnormal | Adult (>18 years old) | Both | details |
| Phenylalanine (HMDB0000159) | Blood | 71.77 +/- 9.21 uM | Abnormal | Elderly (>65 years old) | Both | details |
| L-Tyrosine (HMDB0000158) | Blood | 143.77 +/- 15.49 uM | Abnormal | Elderly (>65 years old) | Both | details |
| DOPA (HMDB0000181) | Blood | 14.0 +/- 2.53 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Dopamine (HMDB0000073) | Blood | 18.0284 +/- 2.4552 uM | Abnormal | Elderly (>65 years old) | Both | details |
| L-Arginine (HMDB0000517) | Blood | 91.34 +/- 13.1 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Citrulline (HMDB0000904) | Blood | 94.97 +/- 11.18 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Ornithine (HMDB0000214) | Blood | 68.35 +/- 22.43 uM | Abnormal | Adult (>18 years old) | Both | details |
| Glutamic acid (HMDB0000148) | Blood | 33.18 +/- 11.26 uM | Abnormal | Elderly (>65 years old) | Both | details |
| epsilon-(gamma-Glutamyl)lysine (HMDB0003869) | Blood | 0.1629 +/- 0.0392 uM | Abnormal | Elderly (>65 years old) | Both | details |
| gamma-Aminobutyric acid (HMDB0000112) | Blood | 1.84 +/- 0.215 uM | Abnormal | Elderly (>65 years old) | Both | details |
| L-alpha-Aminobutyric acid (HMDB0000452) | Blood | 19.79 +/- 2.17 uM | Abnormal | Adult (>18 years old) | Both | details |
| Glutamine (HMDB0000641) | Blood | 228.34 +/- 12.00 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Glycylproline (HMDB0000721) | Blood | 0.23 +/- 0.04 uM | Abnormal | Elderly (>65 years old) | Both | details |
| L-Aspartic acid (HMDB0000191) | Blood | 12.67 +/- 2.86 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Isoleucine (HMDB0000172) | Blood | 1495.2 +/- 373.0 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Lysine (HMDB0000182) | Blood | 216.7 +/- 54.5 uM | Abnormal | Elderly (>65 years old) | Both | details |
| 5-Hydroxylysine (HMDB0000450) | Blood | 0.50 +/- 0.028 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Serine (HMDB0000187) | Blood | 0.21 +/- 0.024 uM | Abnormal | Elderly (>65 years old) | Both | details |
| L-Cysteine (HMDB0000574) | Blood | 12.81 +/- 2.17 uM | Abnormal | Elderly (>65 years old) | Both | details |
| L-Cystine (HMDB0000192) | Blood | 209.0 +/- 46.0 uM | Abnormal | Elderly (>65 years old) | Both | details |
| L-Cystathionine (HMDB0000099) | Blood | 1.03 +/- 0.22 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Glycine (HMDB0000123) | Blood | 0.153 +/- 0.012 uM | Abnormal | Elderly (>65 years old) | Both | details |
| L-Valine (HMDB0000883) | Blood | 58.26 +/- 14.74 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Methylmalonic acid (HMDB0000202) | Blood | 0.480 +/- 0.062 uM | Abnormal | Adult (>18 years old) | Both | details |
| Aluminum (HMDB0001247) | Blood | 0.0823 +/- 0.0460 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Bismuth (HMDB0002196) | Blood | 0.000096 +/- 0.000048 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Calcium (HMDB0000464) | Blood | 1714 +/- 132 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Cadmium (HMDB0003638) | Blood | 0.00120 +/- 0.00053 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Barium (HMDB0004142) | Blood | 0.0042 +/- 0.0019 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Copper (HMDB0000657) | Blood | 15.4 +/- 3.9 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Fe2+ (HMDB0000692) | Blood | 16.3 +/- 7.7 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Mercury (HMDB0003625) | Blood | 0.0088 +/- 0.0039 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Magnesium (HMDB0000547) | Blood | 763 +/- 100 uM | Abnormal | Adult (>18 years old) | Both | details |
| Manganese (HMDB0001333) | Blood | 0.011 +/- 0 .004 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Molybdenum (HMDB0001302) | Blood | 0.012 +/- 0.0059 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Nickel (HMDB0002457) | Blood | 0.01 +/- 0.0062 uM | Abnormal | Adult (>18 years old) | Both | details |
| Lead (HMDB0004628) | Blood | 0.0021 +/- 0.0013 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Lithium (HMDB0005949) | Blood | 0.16 +/- 0.074 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Silicon (HMDB0002175) | Blood | 7.97 +/- 3.79 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Tin (HMDB0001960) | Blood | 0.011 +/- 0.0056 uM | Abnormal | Adult (>18 years old) | Both | details |
| Strontium (HMDB0003642) | Blood | 0.44 +/- 0.16 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Vanadium (HMDB0002503) | Blood | 0.00098 +/- 0.00059 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Tungsten (HMDB0001989) | Blood | 0.00016 +/- 0.00011 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Zinc (HMDB0015532) | Blood | 10.7 +/- 1.8 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Beryllium (HMDB0002387) | Blood | 0.0344 +/- 0.0189 uM | Abnormal | Elderly (>65 years old) | Both | details |
| 8-Hydroxyguanosine (HMDB0002044) | Blood | 0.00153 +/- 0.00060 uM | Abnormal | Adult (>18 years old) | Both | details |
| Tungsten (HMDB0001989) | Blood | 0.00033 +/- 0.00016 uM | Abnormal | Elderly (>65 years old) | Both | details |
| DL-Dopa (HMDB0000609) | Blood | 14.0 +/- 2.5 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-2,4-diaminobutyric acid (HMDB0006284) | Blood | 116.35 +/- 10.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| 4-Hydroxyproline (HMDB0000725) | Blood | 5.6 +/- 0.67 uM | Abnormal | Adult (>18 years old) | Both | details |
| Dehydroepiandrosterone sulfate (HMDB0001032) | Blood | 6.54 +/- 2.55 uM | Abnormal | Adult (>18 years old) | Female | details |
| Thallium (HMDB0013724) | Blood | 0.00083 +/- 0.00042 uM | Abnormal | Adult (>18 years old) | Both | details |
| 1-Methylhistidine (HMDB0000001) | Cerebrospinal Fluid (CSF) | 2.6 +/- 1.13 uM | Abnormal | Adult (>18 years old) | Both | details |
| Folic acid (HMDB0000121) | Cerebrospinal Fluid (CSF) | 0.0056 +/- 0.005 uM | Abnormal | Adult (>18 years old) | Both | details |
| Methylhistidine (HMDB0000479) | Cerebrospinal Fluid (CSF) | 2.48 +/- 1.58 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Homocysteine (HMDB0000742) | Cerebrospinal Fluid (CSF) | 14.2 +/- 1.7 uM | Abnormal | Elderly (>65 years old) | Not Specified | details |
| Acetylcholine (HMDB0000895) | Cerebrospinal Fluid (CSF) | 0.01 +/- 0.005 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Fumaric acid (HMDB0000134) | Cerebrospinal Fluid (CSF) | 11.0 (2.00-20.0) uM | Abnormal | Elderly (>65 years old) | Both | details |
| D-Glucose (HMDB0000122) | Cerebrospinal Fluid (CSF) | 3700.0 (3200.0-4200.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Glutamine (HMDB0000641) | Cerebrospinal Fluid (CSF) | 254.0 (152.0-356.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Glycerophosphocholine (HMDB0000086) | Cerebrospinal Fluid (CSF) | 6.9 +/- 3.2 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Succinic acid (HMDB0000254) | Cerebrospinal Fluid (CSF) | 55.0 (19.0-91.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| 24-Hydroxycholesterol (HMDB0001419) | Cerebrospinal Fluid (CSF) | 0.0061 (0.0058-0.0064) uM | Abnormal | Elderly (>65 years old) | Both | details |
| 27-Hydroxycholesterol (HMDB0002103) | Cerebrospinal Fluid (CSF) | 0.0038 +/- 0.0003 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Dopamine (HMDB0000073) | Cerebrospinal Fluid (CSF) | 0.000078 (0.0000065-0.00015) uM | Abnormal | Adult (>18 years old) | Both | details |
| 3,4-Dihydroxybenzeneacetic acid (HMDB0001336) | Cerebrospinal Fluid (CSF) | 0.0023 (0.00051-0.0042) uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 4-Hydroxynonenal (HMDB0004362) | Cerebrospinal Fluid (CSF) | 0.40 +/- 0.030 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 8-Hydroxyguanine (HMDB0002032) | Cerebrospinal Fluid (CSF) | 0.19 (0.15-0.23) uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Pentosidine (HMDB0003933) | Cerebrospinal Fluid (CSF) | 12.5 (12.0-13.0) uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 4-Hydroxynonenal (HMDB0004362) | Cerebrospinal Fluid (CSF) | 0.36 +/- 0.03 uM | Abnormal | Adult (>18 years old) | Both | details |
| Homocysteine (HMDB0000742) | Cerebrospinal Fluid (CSF) | 0.12 +/- 0.062 uM | Abnormal | Elderly (>65 years old) | Not Specified | details |
| Fe2+ (HMDB0000692) | Cerebrospinal Fluid (CSF) | 2.5 +/- 1.8 uM | Abnormal | Elderly (>65 years old) | Not Specified | details |
| Manganese (HMDB0001333) | Cerebrospinal Fluid (CSF) | 14.6 +/- 13.7 uM | Abnormal | Elderly (>65 years old) | Not Specified | details |
| Mannitol (HMDB0000765) | Cerebrospinal Fluid (CSF) | 5.54 +/- 0.82 uM | Abnormal | Not Specified | Not Specified | details |
| Methylmalonic acid (HMDB0000202) | Cerebrospinal Fluid (CSF) | 0.30 +/- 0.12 uM | Abnormal | Elderly (>65 years old) | Not Specified | details |
| myo-Inositol (HMDB0000211) | Cerebrospinal Fluid (CSF) | 158.8 +/- 27.2 uM | Abnormal | Not Specified | Not Specified | details |
| Phosphorylcholine (HMDB0001565) | Cerebrospinal Fluid (CSF) | 2.16 +/- 0.84 uM | Abnormal | Elderly (>65 years old) | Not Specified | details |
| Ribitol (HMDB0000508) | Cerebrospinal Fluid (CSF) | 3.8 +/- 0.68 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Sorbitol (HMDB0000247) | Cerebrospinal Fluid (CSF) | 22.89 +/- 3.34 uM | Abnormal | Not Specified | Not Specified | details |
| Zinc (HMDB0015532) | Cerebrospinal Fluid (CSF) | 1.83 +/- 1.38 uM | Abnormal | Elderly (>65 years old) | Not Specified | details |
| Thiamine pyrophosphate (HMDB0001372) | Cerebrospinal Fluid (CSF) | 0.0025 +/- 0.0017 uM | Abnormal | Adult (>18 years old) | Both | details |
| Thiamine monophosphate (HMDB0002666) | Cerebrospinal Fluid (CSF) | 0.0035 +/- 0.0038 uM | Abnormal | Adult (>18 years old) | Both | details |
| 1,5-Anhydrosorbitol (HMDB0002712) | Cerebrospinal Fluid (CSF) | 41.7 +/-13.7 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Arabitol (HMDB0001851) | Cerebrospinal Fluid (CSF) | 22.4 +/- 4.6 uM | Abnormal | Adult (>18 years old) | Both | details |
| Galactitol (HMDB0000107) | Cerebrospinal Fluid (CSF) | 1.65 +/- 0.22 uM | Abnormal | Adult (>18 years old) | Both | details |
| Mannitol (HMDB0000765) | Cerebrospinal Fluid (CSF) | 5.6 +/-1.1 uM | Abnormal | Adult (>18 years old) | Both | details |
| myo-Inositol (HMDB0000211) | Cerebrospinal Fluid (CSF) | 158.8 +/- 27.2 uM | Abnormal | Adult (>18 years old) | Both | details |
| Sorbitol (HMDB0000247) | Cerebrospinal Fluid (CSF) | 23.3 +/- 3.3 uM | Abnormal | Adult (>18 years old) | Both | details |
| Copper (HMDB0000657) | Cerebrospinal Fluid (CSF) | 1.39 +/- 1.02 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Fe2+ (HMDB0000692) | Cerebrospinal Fluid (CSF) | 1.8 +/- 1.8 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Manganese (HMDB0001333) | Cerebrospinal Fluid (CSF) | 0.0146 +/- 0.0146 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Zinc (HMDB0015532) | Cerebrospinal Fluid (CSF) | 1.6 +/- 1.6 uM | Abnormal | Adult (>18 years old) | Both | details |
| Prolylhydroxyproline (HMDB0006695) | Cerebrospinal Fluid (CSF) | 0.086 +/- 0.016 uM | Abnormal | Adult (>18 years old) | Both | details |
| Folic acid (HMDB0000121) | Cerebrospinal Fluid (CSF) | 0.008 +/- 0.0011 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Glycylproline (HMDB0000721) | Cerebrospinal Fluid (CSF) | 0.086 +/- 0.016 uM | Abnormal | Elderly (>65 years old) | Both | details |
| Choline (HMDB0000097) | Cerebrospinal Fluid (CSF) | 2.5 +/- 1.0 uM | Abnormal | Elderly (>65 years old) | Both | details |
| 8-Hydroxyguanosine (HMDB0002044) | Cerebrospinal Fluid (CSF) | 0.00050 +/- 0.00021 uM | Abnormal | Elderly (>65 years old) | Both | details |
| L-Arginine (HMDB0000517) | Cerebrospinal Fluid (CSF) | 6.0 +/- 1.4 uM | Abnormal | Adult (>18 years old) | Both | details |
| Histidine (HMDB0000177) | Cerebrospinal Fluid (CSF) | 14.4 +/- 6.32 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Tryptophan (HMDB0000929) | Cerebrospinal Fluid (CSF) | 1.3 +/- 0.32 uM | Abnormal | Adult (>18 years old) | Both | details |
| Phenylalanine (HMDB0000159) | Cerebrospinal Fluid (CSF) | 6.0 +/- 0.8 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Tyrosine (HMDB0000158) | Cerebrospinal Fluid (CSF) | 27.18 +/- 4.8 uM | Abnormal | Adult (>18 years old) | Both | details |
| Dopamine (HMDB0000073) | Cerebrospinal Fluid (CSF) | 0.34 +/- 0.10 uM | Abnormal | Adult (>18 years old) | Both | details |
| Citrulline (HMDB0000904) | Cerebrospinal Fluid (CSF) | 27.0 +/- 2.6 uM | Abnormal | Adult (>18 years old) | Both | details |
| Glutamine (HMDB0000641) | Cerebrospinal Fluid (CSF) | 1146.6 +/- 10.6 uM | Abnormal | Adult (>18 years old) | Both | details |
| 4-Hydroxyproline (HMDB0000725) | Cerebrospinal Fluid (CSF) | 0.28 +/- 0.055 uM | Abnormal | Adult (>18 years old) | Both | details |
| Proline (HMDB0000162) | Cerebrospinal Fluid (CSF) | 0.68 +/- 0.35 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Asparagine (HMDB0000168) | Cerebrospinal Fluid (CSF) | 1.77 +/- 0.16 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Isoleucine (HMDB0000172) | Cerebrospinal Fluid (CSF) | 2.4 +/- 0.65 uM | Abnormal | Adult (>18 years old) | Both | details |
| Lysine (HMDB0000182) | Cerebrospinal Fluid (CSF) | 44.6 +/- 10.8 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Cystine (HMDB0000192) | Cerebrospinal Fluid (CSF) | 7.8 +/- 2.5 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Glycine (HMDB0000123) | Cerebrospinal Fluid (CSF) | 0.28 +/- 0.12 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Valine (HMDB0000883) | Cerebrospinal Fluid (CSF) | 4.13 +/- 1.22 uM | Abnormal | Adult (>18 years old) | Both | details |
| Leucine (HMDB0000687) | Cerebrospinal Fluid (CSF) | 11.5 +/- 1.5 uM | Abnormal | Adult (>18 years old) | Both | details |
| Manganese (HMDB0001333) | Cerebrospinal Fluid (CSF) | 0.0328 +/- 0.0164 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 1-Methylhistamine (HMDB0000898) | Cerebrospinal Fluid (CSF) | 0.00276 +/- 0.00013 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Homocysteine (HMDB0000742) | Cerebrospinal Fluid (CSF) | 0.216 +/- 0.122 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Folic acid (HMDB0000121) | Cerebrospinal Fluid (CSF) | 0.0203 +/- 0.0017 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| S-Adenosylhomocysteine (HMDB0000939) | Cerebrospinal Fluid (CSF) | 0.0269 +/- 0.0062 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Substance P (HMDB0001897) | Cerebrospinal Fluid (CSF) | 0.00002176 +/- 0.000001188 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Substance P (HMDB0001897) | Cerebrospinal Fluid (CSF) | 0.00003111 +/- 0.000002822 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Substance P (HMDB0001897) | Cerebrospinal Fluid (CSF) | 0.00002770 +/- 0.0000020000 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Dynorphin A (HMDB0012935) | Cerebrospinal Fluid (CSF) | 0.00001674 +/- 0.000006976 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| alpha-D-Glucose (HMDB0003345) | Cerebrospinal Fluid (CSF) | 3700.0 (3200.0-4200.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Glycine (HMDB0000123) | Saliva | 164.24 +/- 54.66 uM | Abnormal | Adult (>18 years old) | Male | details |
| Pyruvic acid (HMDB0000243) | Saliva | 149.14 +/- 172.29 uM | Abnormal | Adult (>18 years old) | Male | details |
| Lactic acid (HMDB0000190) | Saliva | 919.97 +/- 827.31 uM | Abnormal | Adult (>18 years old) | Male | details |
| Putrescine (HMDB0001414) | Saliva | 40.66 +/- 9.77 uM | Abnormal | Adult (>18 years old) | Male | details |
| beta-Alanine (HMDB0000056) | Saliva | 2.84 +/- 1.41 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Alanine (HMDB0000161) | Saliva | 40.50 +/- 13.83 uM | Abnormal | Adult (>18 years old) | Male | details |
| Sarcosine (HMDB0000271) | Saliva | 3.37 +/- 1.84 uM | Abnormal | Adult (>18 years old) | Male | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Saliva | 6.62 +/- 0.72 uM | Abnormal | Adult (>18 years old) | Male | details |
| 2-Hydroxybutyric acid (HMDB0000008) | Saliva | 7.26 +/- 4.47 uM | Abnormal | Adult (>18 years old) | Male | details |
| gamma-Aminobutyric acid (HMDB0000112) | Saliva | 1.08 +/- 0.34 uM | Abnormal | Adult (>18 years old) | Male | details |
| Choline (HMDB0000097) | Saliva | 23.98 +/- 10.66 uM | Abnormal | Adult (>18 years old) | Male | details |
| Serine (HMDB0000187) | Saliva | 26.01 +/- 5.43 uM | Abnormal | Adult (>18 years old) | Male | details |
| Creatinine (HMDB0000562) | Saliva | 22.80 +/- 20.41 uM | Abnormal | Adult (>18 years old) | Male | details |
| Proline (HMDB0000162) | Saliva | 77.33 +/- 4.56 uM | Abnormal | Adult (>18 years old) | Male | details |
| Betaine (HMDB0000043) | Saliva | 6.43 +/- 0.37 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Valine (HMDB0000883) | Saliva | 4.27 +/- 0.46 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Threonine (HMDB0000167) | Saliva | 3.65 +/- 0.97 uM | Abnormal | Adult (>18 years old) | Male | details |
| Creatine (HMDB0000064) | Saliva | 29.86 +/- 19.99 uM | Abnormal | Adult (>18 years old) | Male | details |
| Isoleucine (HMDB0000172) | Saliva | 0.83 +/- 0.21 uM | Abnormal | Adult (>18 years old) | Male | details |
| Leucine (HMDB0000687) | Saliva | 2.73 +/- 0.76 uM | Abnormal | Adult (>18 years old) | Male | details |
| Malic acid (HMDB0000156) | Saliva | 22.27 +/- 14.67 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Asparagine (HMDB0000168) | Saliva | 1.68 +/- 2.90 uM | Abnormal | Adult (>18 years old) | Male | details |
| Ornithine (HMDB0000214) | Saliva | 28.26 +/- 9.78 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Aspartic acid (HMDB0000191) | Saliva | 9.62 +/- 6.59 uM | Abnormal | Adult (>18 years old) | Male | details |
| Adenine (HMDB0000034) | Saliva | 1.03 +/- 0.73 uM | Abnormal | Adult (>18 years old) | Male | details |
| Hypoxanthine (HMDB0000157) | Saliva | 2.60 +/- 1.07 uM | Abnormal | Adult (>18 years old) | Male | details |
| Spermidine (HMDB0001257) | Saliva | 0.46 +/- 0.14 uM | Abnormal | Adult (>18 years old) | Male | details |
| Glutamine (HMDB0000641) | Saliva | 22.30 +/- 10.19 uM | Abnormal | Adult (>18 years old) | Male | details |
| Lysine (HMDB0000182) | Saliva | 45.55 +/- 15.63 uM | Abnormal | Adult (>18 years old) | Male | details |
| D-Glutamic acid (HMDB0003339) | Saliva | 38.26 +/- 29.05 uM | Abnormal | Adult (>18 years old) | Male | details |
| Guanine (HMDB0000132) | Saliva | 1.36 +/- 0.14 uM | Abnormal | Adult (>18 years old) | Male | details |
| Histidine (HMDB0000177) | Saliva | 16.96 +/- 7.43 uM | Abnormal | Adult (>18 years old) | Male | details |
| Phenylalanine (HMDB0000159) | Saliva | 5.97 +/- 0.09 uM | Abnormal | Adult (>18 years old) | Male | details |
| Phosphoenolpyruvic acid (HMDB0000263) | Saliva | 1.94 +/- 1.62 uM | Abnormal | Adult (>18 years old) | Male | details |
| Dihydroxyacetone phosphate (HMDB0001473) | Saliva | 8.45 +/- 4.68 uM | Abnormal | Adult (>18 years old) | Male | details |
| Glycerol 3-phosphate (HMDB0000126) | Saliva | 14.80 +/- 11.37 uM | Abnormal | Adult (>18 years old) | Male | details |
| cis-Aconitic acid (HMDB0000072) | Saliva | 2.80 +/- 2.11 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Arginine (HMDB0000517) | Saliva | 15.58 +/- 5.74 uM | Abnormal | Adult (>18 years old) | Male | details |
| Citrulline (HMDB0000904) | Saliva | 17.64 +/- 10.31 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Tyrosine (HMDB0000158) | Saliva | 21.64 +/- 9.24 uM | Abnormal | Adult (>18 years old) | Male | details |
| 3-Phosphoglyceric acid (HMDB0000807) | Saliva | 6.07 +/- 3.08 uM | Abnormal | Adult (>18 years old) | Male | details |
| Isocitric acid (HMDB0000193) | Saliva | 3.75 +/- 2.89 uM | Abnormal | Adult (>18 years old) | Male | details |
| Citric acid (HMDB0000094) | Saliva | 66.67 +/- 68.53 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Tryptophan (HMDB0000929) | Saliva | 0.22 +/- 0.16 uM | Abnormal | Adult (>18 years old) | Male | details |
| D-Ribose 5-phosphate (HMDB0001548) | Saliva | 1.00 +/- 0.44 uM | Abnormal | Adult (>18 years old) | Male | details |
| D-Ribulose 5-phosphate (HMDB0000618) | Saliva | 3.41 +/- 1.80 uM | Abnormal | Adult (>18 years old) | Male | details |
| Cytidine (HMDB0000089) | Saliva | 0.39 +/- 0.30 uM | Abnormal | Adult (>18 years old) | Male | details |
| Glucose 1-phosphate (HMDB0001586) | Saliva | 1.07 +/- 0.26 uM | Abnormal | Adult (>18 years old) | Male | details |
| Glucose 6-phosphate (HMDB0001401) | Saliva | 4.06 +/- 0.96 uM | Abnormal | Adult (>18 years old) | Male | details |
| Fructose 6-phosphate (HMDB0000124) | Saliva | 1.01 +/- 0.47 uM | Abnormal | Adult (>18 years old) | Male | details |
| Adenosine (HMDB0000050) | Saliva | 0.40 +/- 0.20 uM | Abnormal | Adult (>18 years old) | Male | details |
| D-Sedoheptulose 7-phosphate (HMDB0001068) | Saliva | 0.91 +/- 0.26 uM | Abnormal | Adult (>18 years old) | Male | details |
| Oxidized glutathione (HMDB0003337) | Saliva | 0.39 +/- 0.18 uM | Abnormal | Adult (>18 years old) | Male | details |
| Cytidine monophosphate (HMDB0000095) | Saliva | 0.90 +/- 0.71 uM | Abnormal | Adult (>18 years old) | Male | details |
| Uridine 5'-monophosphate (HMDB0000288) | Saliva | 1.20 +/- 0.55 uM | Abnormal | Adult (>18 years old) | Male | details |
| Adenosine monophosphate (HMDB0000045) | Saliva | 1.39 +/- 1.25 uM | Abnormal | Adult (>18 years old) | Male | details |
| Glycylproline (HMDB0000721) | Urine | 0.0087 +/- 0.0016 umol/mmol creatinine | Abnormal | Elderly (>65 years old) | Both | details |
| L-Arginine (HMDB0000517) | Urine | 2.0 +/- 0.21 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Histidine (HMDB0000177) | Urine | 30.5 +/- 4.3 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 1-Methylhistidine (HMDB0000001) | Urine | 15.7 +/- 4.04 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Methylhistidine (HMDB0000479) | Urine | 24.0 +/- 1.7 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Carnosine (HMDB0000033) | Urine | 18.8 +/- 10.31 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Anserine (HMDB0000194) | Urine | 8.0 +/- 5.0 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-Tryptophan (HMDB0000929) | Urine | 1.19 +/- 0.23 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Phenylalanine (HMDB0000159) | Urine | 1.37 +/- 0.18 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-Tyrosine (HMDB0000158) | Urine | 10.5 +/- 1.5 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Citrulline (HMDB0000904) | Urine | 21.0 +/- 2.8 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Ornithine (HMDB0000214) | Urine | 12.34 +/- 5.07 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-2,4-diaminobutyric acid (HMDB0006284) | Urine | 36.0 +/- 5.0 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Glutamine (HMDB0000641) | Urine | 1.17 +/- 0.49 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 4-Hydroxyproline (HMDB0000725) | Urine | 0.21 +/- 0.017 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Isoleucine (HMDB0000172) | Urine | 0.13 +/- 0.04 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-Threonine (HMDB0000167) | Urine | 0.03 +/- 0.003 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Lysine (HMDB0000182) | Urine | 5.5 +/- 1.74 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-Cystine (HMDB0000192) | Urine | 72.03 +/- 12.0 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-Cystathionine (HMDB0000099) | Urine | 1.68 +/- 0.5 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Glycine (HMDB0000123) | Urine | 0.010 +/- 0.001 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-Valine (HMDB0000883) | Urine | 0.73 +/- 0.12 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Leucine (HMDB0000687) | Urine | 0.91 +/- 0.11 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Aminoacylase I deficiency (609924 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Acetylglycine (HMDB0000532) | Urine | 170 +/- 18 nmol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| N-Acetylserine (HMDB0002931) | Urine | 104 (99-111) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Not Specified | details |
Amish lethal microcephaly (607196 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Citric acid (HMDB0000094) | Urine | 1.177-354.851 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| Fumaric acid (HMDB0000134) | Urine | 0-14.611 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| L-Alanine (HMDB0000161) | Urine | 427.656-681.457 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| cis-Aconitic acid (HMDB0000072) | Urine | 6.494-293.514 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| Lactic acid (HMDB0000190) | Urine | 12.551-1701.964 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| Oxoglutaric acid (HMDB0000208) | Urine | 673.261-2970.0885 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| trans-Aconitic acid (HMDB0000958) | Urine | 6.494-293.514 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
Amyotrophic lateral sclerosis (105400 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Thyronine (HMDB0000667) | Blood | 0.34 +/- 0.02 uM | Abnormal | Adult (>18 years old) | Both | details |
| Homocysteine (HMDB0000742) | Blood | 13.94 +/- 3.47 uM | Abnormal | Adult (>18 years old) | Both | details |
| Prostaglandin E2 (HMDB0001220) | Cerebrospinal Fluid (CSF) | 35.0 +/- 10.0 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Nitrate (HMDB0002878) | Cerebrospinal Fluid (CSF) | 102.0 +/- 33.0 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Manganese (HMDB0001333) | Cerebrospinal Fluid (CSF) | 0.0400 +/- 0.0273 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Quinolinic acid (HMDB0000232) | Cerebrospinal Fluid (CSF) | 0.06 +/- 0.01 uM | Abnormal | Adult (>18 years old) | Female | details |
| Picolinic acid (HMDB0002243) | Cerebrospinal Fluid (CSF) | 0.36 +/- 0.04 uM | Abnormal | Adult (>18 years old) | Male | details |
| Picolinic acid (HMDB0002243) | Cerebrospinal Fluid (CSF) | 0.37 +/- 0.06 uM | Abnormal | Adult (>18 years old) | Female | details |
Anemia
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Kynurenic acid (HMDB0000715) | Cerebrospinal Fluid (CSF) | 1.23 (0.18-8.40) uM | Abnormal | Not Specified | Not Specified | details |
| Pipecolic acid (HMDB0000070) | Cerebrospinal Fluid (CSF) | 0.38 (0.11-1.26) uM | Abnormal | Not Specified | Not Specified | details |
| Quinolinic acid (HMDB0000232) | Cerebrospinal Fluid (CSF) | 0.10 (0-2.37) uM | Abnormal | Not Specified | Not Specified | details |
Anemia, congenital dyserythropoietic, type II (224100 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Bilirubin (HMDB0000054) | Blood | 25.656-78.678 uM | Abnormal | Adult (>18 years old) | Both | details |
Anephric patients
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Calcidiol (HMDB0003550) | Blood | 0.044 (0.013-0.074) uM | Abnormal | Adult (>18 years old) | Both | details |
| Ergocalciferol (HMDB0000900) | Blood | 0.0032 (0.0017-0.0047) uM | Abnormal | Adult (>18 years old) | Male | details |
| Vitamin D3 (HMDB0000876) | Blood | 0.0037 +/- 0.0016 uM | Abnormal | Adult (>18 years old) | Both | details |
| 25-Hydroxyvitamin D2 (HMDB0001438) | Blood | 0.046 (0.024-0.069) uM | Abnormal | Adult (>18 years old) | Both | details |
| 25,26-dihydroxyvitamin D (HMDB0001420) | Blood | 0.00144 (0.000720-0.00216) uM | Abnormal | Adult (>18 years old) | Both | details |
| 24,25-Dihydroxyvitamin D (HMDB0000430) | Blood | 0.0045 +/- 0.0031 uM | Abnormal | Adult (>18 years old) | Male | details |
Angina
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 11-Dehydro-thromboxane B2 (HMDB0004242) | Urine | 0.000165 +/- 0.0000544 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 11-Dehydro-thromboxane B2 (HMDB0004242) | Urine | 0.0000733 +/- 0.0000266 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Anorexia nervosa (606788 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Riboflavin (HMDB0000244) | Blood | 0.015 +/- 0.018 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Flavin mononucleotide (HMDB0001520) | Blood | 0.012 +/- 0.006 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Thyroxine (HMDB0000248) | Blood | 0.000011 +/- 0.0000016 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Liothyronine (HMDB0000265) | Blood | 0.0014 +/- 0.0004 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| 5alpha-Tetrahydrocortisol (HMDB0000526) | Blood | 0.023 +/- 0.009 uM | Abnormal | Adult (>18 years old) | Both | details |
| FAD (HMDB0001248) | Blood | 0.048 +/- 0.023 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Tetrahydrocortisone (HMDB0000903) | Blood | 0.023 +/- 0.009 uM | Abnormal | Adult (>18 years old) | Both | details |
| Indoleacetic acid (HMDB0000197) | Cerebrospinal Fluid (CSF) | 0.0251 +/- 0.00240 uM | Abnormal | Not Specified | Not Specified | details |
| Isovalerylglycine (HMDB0000678) | Urine | 7.7 +/- 4.8 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Female | details |
| Suberic acid (HMDB0000893) | Urine | 9.5 +/- 3.9 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Female | details |
| Ethylmalonic acid (HMDB0000622) | Urine | 7.1 +/- 4.4 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
| Adipic acid (HMDB0000448) | Urine | 8.6 +/- 8.3 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Female | details |
| Glutaric acid (HMDB0000661) | Urine | 3.4 +/- 1.9 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Female | details |
| Cortisol (HMDB0000063) | Urine | 0.44 +/- 0.09 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Anoxia
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Oxoglutaric acid (HMDB0000208) | Cellular Cytoplasm | 150 (144-156) uM | Abnormal | Adult (>18 years old) | Both | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Cellular Cytoplasm | 2600 (2500-2700) uM | Abnormal | Adult (>18 years old) | Both | details |
| Acetoacetic acid (HMDB0000060) | Cellular Cytoplasm | 1000 (800-1200) uM | Abnormal | Adult (>18 years old) | Both | details |
| Glutamic acid (HMDB0000148) | Cellular Cytoplasm | 2500 (2100-2900) uM | Abnormal | Adult (>18 years old) | Both | details |
| Isocitric acid (HMDB0000193) | Cellular Cytoplasm | 15 (14.8-15.2) uM | Abnormal | Adult (>18 years old) | Both | details |
| Malic acid (HMDB0000156) | Cellular Cytoplasm | 480 (470-490) uM | Abnormal | Adult (>18 years old) | Both | details |
| Oxalacetic acid (HMDB0000223) | Cellular Cytoplasm | 2 uM | Abnormal | Adult (>18 years old) | Both | details |
| Pyruvic acid (HMDB0000243) | Cellular Cytoplasm | 140 (130-150) uM | Abnormal | Adult (>18 years old) | Both | details |
| Lactic acid (HMDB0000190) | Cellular Cytoplasm | 16000 (13000-19000) uM | Abnormal | Adult (>18 years old) | Both | details |
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (201750 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Cholesterol (HMDB0000067) | Blood | 4250.0585 +/- 658.471 uM | Abnormal | Adult (>18 years old) | Both | details |
| Cortisol (HMDB0000063) | Blood | 0.434-0.654 uM | Abnormal | Infant (0-1 year old) | Both | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.00240-0.00830 uM | Abnormal | Infant (0-1 year old) | Both | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.0120-0.180 uM | Abnormal | Infant (0-1 year old) | Both | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.0147-0.0420 uM | Abnormal | Infant (0-1 year old) | Both | details |
| Progesterone (HMDB0001830) | Blood | 0.0108-0.119 uM | Abnormal | Infant (0-1 year old) | Both | details |
Apparent mineralocorticoid excess (218030 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Cortisol (HMDB0000063) | Blood | 0.135 uM | Abnormal | Children (1-13 years old) | Female | details |
| Potassium (HMDB0000586) | Blood | 2700 uM | Abnormal | Infant (0-1 year old) | Female | details |
Appendicitis
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Indoleacetic acid (HMDB0000197) | Urine | 3.5 +/- 0.33 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Indoleacetic acid (HMDB0000197) | Urine | 3.1 +/- 0.14 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Argininemia (207800 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Arginine (HMDB0000517) | Blood | 73.0 (6.0-140.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Arginine (HMDB0000517) | Blood | 1250.0 (1000.0-1500.0) uM | Abnormal | Children (1-13 years old) | Both | details |
| L-Arginine (HMDB0000517) | Blood | 907 uM | Abnormal | Children (1-13 years old) | Male | details |
| L-Arginine (HMDB0000517) | Blood | 252-1579.200 uM | Abnormal | Children (1-13 years old) | Female | details |
| L-Arginine (HMDB0000517) | Blood | 68-422 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| L-Arginine (HMDB0000517) | Cerebrospinal Fluid (CSF) | 88000 uM | Abnormal | Children (1-13 years old) | Female | details |
| L-Arginine (HMDB0000517) | Cerebrospinal Fluid (CSF) | 78 uM | Abnormal | Children (1-13 years old) | Male | details |
| Argininosuccinic acid (HMDB0000052) | Urine | 0.65 (0.0-1.3) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Uracil (HMDB0000300) | Urine | 12.0 (2.0-22.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Uracil (HMDB0000300) | Urine | 35.0 (20.0-50.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Uridine (HMDB0000296) | Urine | 67.836 (18.0896-125.497) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Specified | details |
| Uracil (HMDB0000300) | Urine | 321.0904 (290.564-368.576) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Specified | details |
| Uracil (HMDB0000300) | Urine | 144.265 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
Argininosuccinic aciduria (207900 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Citrulline (HMDB0000904) | Blood | 27.5 (10.0-45.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Citrulline (HMDB0000904) | Blood | 284 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Argininosuccinic acid (HMDB0000052) | Blood | 1515 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Ammonia (HMDB0000051) | Blood | 62 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Ammonia (HMDB0000051) | Blood | 94 uM | Abnormal | Children (1-13 years old) | Male | details |
| Citrulline (HMDB0000904) | Blood | 200.0 (100.0-300.0) uM | Abnormal | Children (1-13 years old) | Both | details |
| Ammonia (HMDB0000051) | Blood | 1100.0 (200.0-2000.0) uM | Abnormal | Children (1-13 years old) | Both | details |
| L-Arginine (HMDB0000517) | Urine | 1941.3 +/- 122.5 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Betaine (HMDB0000043) | Urine | 210.1 +/- 16.4 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Citric acid (HMDB0000094) | Urine | 80.9 +/- 1.8 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Glycine (HMDB0000123) | Urine | 53.1 +/- 1.8 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Hippuric acid (HMDB0000714) | Urine | 20.5 +/- 0.7 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Histidine (HMDB0000177) | Urine | 52.9 +/- 12.5 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Trimethylamine N-oxide (HMDB0000925) | Urine | 38.1 +/- 2.9 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Acetic acid (HMDB0000042) | Urine | 54.1 +/- 23.8 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Argininosuccinic acid (HMDB0000052) | Urine | 1542.00 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Argininosuccinic acid (HMDB0000052) | Urine | 667 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
Argininosuccinyl-CoA lyase deficiency
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Argininosuccinic acid (HMDB0000052) | Blood | 300.0 (270.0-458.0) uM | Abnormal | Children (1-13 years old) | Female | details |
Aromatase deficiency (613546 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Cortisol (HMDB0000063) | Blood | 0.558 uM | Abnormal | Children (1-13 years old) | Female | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.0016 uM | Abnormal | Children (1-13 years old) | Female | details |
| Estrone (HMDB0000145) | Blood | <0.00004 uM | Abnormal | Children (1-13 years old) | Female | details |
| Estriol (HMDB0000153) | Blood | <0.00000002 uM | Abnormal | Children (1-13 years old) | Female | details |
| Dehydroepiandrosterone sulfate (HMDB0001032) | Blood | <0.810 uM | Abnormal | Children (1-13 years old) | Female | details |
| Estradiol (HMDB0000151) | Blood | <0.000005 uM | Abnormal | Children (1-13 years old) | Female | details |
| Testosterone (HMDB0000234) | Blood | <0.000002 uM | Abnormal | Children (1-13 years old) | Female | details |
Aromatic L-amino acid decarboxylase deficiency (608643 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 3-Methoxytyrosine (HMDB0001434) | Cerebrospinal Fluid (CSF) | 1.2 (1.0-1.6) uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.0120-0.0220 uM | Abnormal | Children (1-13 years old) | Female | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.027 uM | Abnormal | Infant (0-1 year old) | Female | details |
| 5-Hydroxy-L-tryptophan (HMDB0000472) | Cerebrospinal Fluid (CSF) | 0.0970-0.136 uM | Abnormal | Children (1-13 years old) | Female | details |
| 5-Hydroxy-L-tryptophan (HMDB0000472) | Cerebrospinal Fluid (CSF) | 0.063 uM | Abnormal | Infant (0-1 year old) | Female | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.0820-0.149 uM | Abnormal | Children (1-13 years old) | Female | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.128 uM | Abnormal | Infant (0-1 year old) | Female | details |
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 0.003 +/- 0.003 uM | Abnormal | Adult (>18 years old) | Both | details |
| 3-Methoxytyrosine (HMDB0001434) | Cerebrospinal Fluid (CSF) | 1.2 +/- 0.0 uM | Abnormal | Infant (0-1 year old) | Male | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.0025 (0.0000-0.0050) uM | Abnormal | Infant (0-1 year old) | Male | details |
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 0.003 (0.000-0.005) uM | Abnormal | Infant (0-1 year old) | Male | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.083 +/- 0.000 uM | Abnormal | Infant (0-1 year old) | Male | details |
| DOPA (HMDB0000181) | Urine | 11.38 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Dopamine (HMDB0000073) | Urine | 3.91 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Serotonin (HMDB0000259) | Urine | 0.188 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| Serotonin (HMDB0000259) | Urine | 0.221 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Vanillylmandelic acid (HMDB0000291) | Urine | 0.5 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| Vanillylmandelic acid (HMDB0000291) | Urine | 0.9 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Urine | 0.2 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Urine | 2.2 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Normetanephrine (HMDB0000819) | Urine | 0.016 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| Normetanephrine (HMDB0000819) | Urine | 0.055 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Vanillactic acid (HMDB0000913) | Urine | 11.3 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Vanillactic acid (HMDB0000913) | Urine | 12.7 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| DOPA (HMDB0000181) | Urine | 8.683 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| Homovanillic acid (HMDB0000118) | Urine | 34.1 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| Homovanillic acid (HMDB0000118) | Urine | 15.5 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Vanilpyruvic acid (HMDB0011714) | Urine | 10 +/- 2 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Dopamine (HMDB0000073) | Urine | 2.7 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| N-Acetylvanilalanine (HMDB0011716) | Urine | 10 +/- 2 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Dopamine (HMDB0000073) | Urine | 3.119 +/- 0 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Dopamine (HMDB0000073) | Urine | 2426 +/- 0 nmol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Homovanillic acid (HMDB0000118) | Urine | 2.9 +/- 0.0 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Urine | 0.9 +/- 0.0 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Vanillylmandelic acid (HMDB0000291) | Urine | 0.15 (0.00-0.30) umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| N-Acetyl-L-tyrosine (HMDB0000866) | Urine | 10 +/- 2 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
Aseptic meningitis
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Leukotriene B4 (HMDB0001085) | Cerebrospinal Fluid (CSF) | 0.00477 +/- 0.000813 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| Leukotriene C4 (HMDB0001198) | Cerebrospinal Fluid (CSF) | 0.000185 +/- 0.00007628 uM | Abnormal | Children (1-13 years old) | Not Specified | details |