Browsing Diseases
Bile Acid Synthesis Defect, Congenital, 1 (607765 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Bilirubin (HMDB0000054) | Blood | 106 uM | Abnormal | Infant (0-1 year old) | Female | details |
| 3b-Hydroxy-5-cholenoic acid (HMDB0000308) | Urine | 493-15753 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| 3b-Hydroxy-5-cholenoic acid (HMDB0000308) | Urine | 441 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
Biliary atresia (210500 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Hyaluronic acid (HMDB0002061) | Blood | 1.2 (0.04-10.52) uM | Abnormal | Adult (>18 years old) | Both | details |
| Lithocholic acid (HMDB0000761) | Blood | 0.11 +/- 0.04 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Chenodeoxycholic acid (HMDB0000518) | Blood | 7.4 +/- 2.5 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Cholic acid (HMDB0000619) | Blood | 15.6 +/- 3.6 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Glycocholic acid (HMDB0000138) | Blood | 44.0 +/- 29.1 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| Chenodeoxycholic acid glycine conjugate (HMDB0000637) | Urine | 0.032 +/- 0.058 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Glycolic acid (HMDB0000115) | Urine | 0.40 +/- 0.36 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Cholic acid (HMDB0000619) | Urine | 0.075 +/- 0.090 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Taurocholic acid (HMDB0000036) | Urine | 0.15 +/- 0.087 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Chenodeoxycholic acid (HMDB0000518) | Urine | 0.0092 +/- 0.013 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Taurochenodesoxycholic acid (HMDB0000951) | Urine | 0.013 +/- 0.021 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Allolithocholic acid (HMDB0000381) | Urine | Not Quantified | Abnormal | Infant (0-1 year old) | Not Specified | details |
Biotinidase deficiency (253260 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 3-Hydroxyisovaleric acid (HMDB0000754) | Blood | 9.5 (0.00-19.00) uM | Abnormal | Adult (>18 years old) | Both | details |
| 3-Hydroxyisovaleric acid (HMDB0000754) | Blood | 88.0 (10.0-166.0) uM | Abnormal | Children (1-13 years old) | Both | details |
| 3-Hydroxyisovaleric acid (HMDB0000754) | Urine | 275.0 (50.0-500.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Hydroxypropionic acid (HMDB0000700) | Urine | 6.5 (3.0-10.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Hydroxypropionic acid (HMDB0000700) | Urine | 260.0 (20.0-500.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| 3-Methylcrotonylglycine (HMDB0000459) | Urine | 27.5 (5.0-50.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| 2-Methylcitric acid (HMDB0000379) | Urine | 7.0 (2.0-12.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 2-Methylcitric acid (HMDB0000379) | Urine | 30.0 (10.0-50.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Bipolar disorder (125480 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Cortisol (HMDB0000063) | Blood | 0.27 +/- 0.06 uM | Abnormal | Adult (>18 years old) | Both | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.116 +/- 0.0479 uM | Abnormal | Not Specified | Not Specified | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.112 +/- 0.0483 uM | Abnormal | Not Specified | Not Specified | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.0983 +/- 0.0444 uM | Abnormal | Not Specified | Not Specified | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.0912 +/- 0.0387 uM | Abnormal | Not Specified | Not Specified | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.123 +/- 0.0505 uM | Abnormal | Not Specified | Not Specified | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.116 +/- 0.053 uM | Abnormal | Not Specified | Not Specified | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.104 +/- 0.0386 uM | Abnormal | Not Specified | Not Specified | details |
Bladder infections
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 2-Pyrrolidinone (HMDB0002039) | Blood | 4.23 (0.0-26.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Butyric acid (HMDB0000039) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Glyoxylic acid (HMDB0000119) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Folic acid (HMDB0000121) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Linoleic acid (HMDB0000673) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Arachidonic acid (HMDB0001043) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Glyceraldehyde (HMDB0001051) | Feces | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Dimethylamine (HMDB0000087) | Urine | 35.268 (6.543 - 159.703) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Brain tumors
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 3,5-Diiodothyronine (HMDB0000582) | Blood | 0.000021 +/- 0.000005 uM | Abnormal | Adult (>18 years old) | Both | details |
| Thromboxane B2 (HMDB0003252) | Cerebrospinal Fluid (CSF) | 0.000032 +/- 0.00001 uM | Abnormal | Adult (>18 years old) | Both | details |
Branched-chain Keto Acid Dehydrogenase Kinase Deficiency (614923 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Isoleucine (HMDB0000172) | Blood | 10-23 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Isoleucine (HMDB0000172) | Blood | 10-26 uM | Abnormal | Adult (>18 years old) | Female | details |
| Isoleucine (HMDB0000172) | Blood | 9-57 uM | Abnormal | Children (1-13 years old) | Both | details |
| Leucine (HMDB0000687) | Blood | 18-46 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Leucine (HMDB0000687) | Blood | 20-46 uM | Abnormal | Adult (>18 years old) | Female | details |
| Leucine (HMDB0000687) | Blood | 15-113 uM | Abnormal | Children (1-13 years old) | Both | details |
| L-Valine (HMDB0000883) | Blood | 44-89 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| L-Valine (HMDB0000883) | Blood | 57-86 uM | Abnormal | Adult (>18 years old) | Female | details |
| L-Valine (HMDB0000883) | Blood | 32-147.300 uM | Abnormal | Children (1-13 years old) | Both | details |
| Glycolic acid (HMDB0000115) | Blood | 0 uM | Abnormal | Adult (>18 years old) | Female | details |
| Glycolic acid (HMDB0000115) | Blood | 0 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Ketoleucine (HMDB0000695) | Blood | 0 uM | Abnormal | Adult (>18 years old) | Female | details |
| Ketoleucine (HMDB0000695) | Blood | 0 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Hydroxypropionic acid (HMDB0000700) | Blood | 1 uM | Abnormal | Adult (>18 years old) | Female | details |
| Hydroxypropionic acid (HMDB0000700) | Blood | 0 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
Breast cancer
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 1-Methylinosine (HMDB0002721) | Urine | 3.14 +/- 2.04 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Brown-Vialetto-Van Laere Syndrome 1 (211530 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Creatinine (HMDB0000562) | Blood | 35.361 uM | Abnormal | Adolescent (13-18 years old) | Not Available | details |
| Riboflavin (HMDB0000244) | Blood | 0.00502 uM | Abnormal | Adolescent (13-18 years old) | Not Available | details |
Brunner Syndrome (300615 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 3-Methoxytyramine (HMDB0000022) | Urine | 0.217-0.318 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| 3-Methoxytyramine (HMDB0000022) | Urine | 0.0140-0.0340 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| Serotonin (HMDB0000259) | Urine | 0.124-0.233 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| Tyramine (HMDB0000306) | Urine | 1.329-4.554 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| Tyramine (HMDB0000306) | Urine | 0.428-0.707 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| Normetanephrine (HMDB0000819) | Urine | 0.392-0.666 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| Normetanephrine (HMDB0000819) | Urine | 0.0520-0.0780 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| Homovanillic acid (HMDB0000118) | Urine | 0.4-0.5 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| Vanillylmandelic acid (HMDB0000291) | Urine | 0.2-0.4 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Urine | 0.8-1.4 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| Vanylglycol (HMDB0001490) | Urine | 0.1-0.2 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
Bulimia nervosa
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Phenylethylamine (HMDB0012275) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
Cachexia
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Uric acid (HMDB0000289) | Blood | 612 +/- 36 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Valine (HMDB0000883) | Cerebrospinal Fluid (CSF) | 98.61 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| L-Tyrosine (HMDB0000158) | Urine | 10.72 +/- 4.63 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Not Specified | details |
| myo-Inositol (HMDB0000211) | Urine | 20.33 +/- 13.70 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Not Specified | details |
| L-Tryptophan (HMDB0000929) | Urine | 7.83 +/- 7.48 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Cadmium exposure
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Testosterone (HMDB0000234) | Blood | 9.31 (3.31-19.95) uM | Abnormal | Adult (>18 years old) | Male | details |
Canavan disease (271900 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Uracil (HMDB0000300) | Blood | 2.25 +/- 0.98 uM | Abnormal | Adult (>18 years old) | Both | details |
| Xanthine (HMDB0000292) | Blood | 6.37 +/- 1.95 uM | Abnormal | Adult (>18 years old) | Both | details |
| Creatinine (HMDB0000562) | Blood | 35.23 +/- 5.28 uM | Abnormal | Adult (>18 years old) | Both | details |
| Cytidine (HMDB0000089) | Blood | 0.26 +/- 0.13 uM | Abnormal | Adult (>18 years old) | Both | details |
| Thymidine (HMDB0000273) | Blood | 0.31 +/- 0.09 uM | Abnormal | Adult (>18 years old) | Both | details |
| Hypoxanthine (HMDB0000157) | Blood | 5.56 +/- 1.74 uM | Abnormal | Adult (>18 years old) | Both | details |
| Uridine (HMDB0000296) | Blood | 4.23 +/- 1.92 uM | Abnormal | Adult (>18 years old) | Both | details |
| Ascorbic acid (HMDB0000044) | Blood | 82.57 +/- 36.71 uM | Abnormal | Adult (>18 years old) | Both | details |
| Inosine (HMDB0000195) | Blood | 0.68 +/- 0.47 uM | Abnormal | Adult (>18 years old) | Both | details |
| Oxidized glutathione (HMDB0003337) | Blood | 1.98 +/- 0.41 uM | Abnormal | Adult (>18 years old) | Both | details |
| Glutathione (HMDB0000125) | Blood | 30.22 +/- 2.55 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| Orotic acid (HMDB0000226) | Blood | 0.94 +/- 0.78 uM | Abnormal | Adult (>18 years old) | Both | details |
| N-Acetyl-L-aspartic acid (HMDB0000812) | Blood | 16.96 +/- 19.57 uM | Abnormal | Adult (>18 years old) | Both | details |
| Pseudouridine (HMDB0000767) | Blood | 16.70 +/- 3.72 uM | Abnormal | Adult (>18 years old) | Both | details |
| Uric acid (HMDB0000289) | Blood | 1797.90 +/- 895.44 uM | Abnormal | Adult (>18 years old) | Both | details |
| N-Acetyl-L-aspartic acid (HMDB0000812) | Blood | 920-1370 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| N-Acetyl-L-aspartic acid (HMDB0000812) | Cerebrospinal Fluid (CSF) | 380.0 (0.0-760.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| N-Acetylaspartylglutamic acid (HMDB0001067) | Cerebrospinal Fluid (CSF) | 16.37(3.55-37.30) uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| N-Acetylaspartylglutamic acid (HMDB0001067) | Cerebrospinal Fluid (CSF) | 18.7 (0.0-37.4) uM | Abnormal | Adult (>18 years old) | Both | details |
| Succinic acid (HMDB0000254) | Cerebrospinal Fluid (CSF) | 19.0 (0.0-38.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Citric acid (HMDB0000094) | Cerebrospinal Fluid (CSF) | 2400.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| Uracil (HMDB0000300) | Urine | 20.24 +/- 7.24 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 3-Methyladenine (HMDB0011600) | Urine | 3.96 +/- 1.44 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Inosine (HMDB0000195) | Urine | 1.00 +/- 1.61 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Uric acid (HMDB0000289) | Urine | 1554.14 +/- 748.85 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 1-Methyluric acid (HMDB0003099) | Urine | 7.04 +/- 1.57 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Thymidine (HMDB0000273) | Urine | 4.58 +/- 4.58 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Orotic acid (HMDB0000226) | Urine | 6.11 +/- 5.48 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| N-Acetyl-L-aspartic acid (HMDB0000812) | Urine | 1872.03 +/- 631.86 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Hypoxanthine (HMDB0000157) | Urine | 15.12 +/- 17.44 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Cytidine (HMDB0000089) | Urine | 4.03 +/- 1.77 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| N-Acetyl-L-aspartic acid (HMDB0000812) | Urine | 306.820 +/- 184.100 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Available | details |
| N-Acetyl-L-aspartic acid (HMDB0000812) | Urine | 1299.5-3680.9 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Specified | details |
Cancer with metastatic bone disease
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-alpha-Aminobutyric acid (HMDB0000452) | Urine | 1.27 +/- 2.4 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Carbamoyl Phosphate Synthetase Deficiency (237300 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Glutamine (HMDB0000641) | Blood | 542.5 (376.0-709.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Glutamine (HMDB0000641) | Blood | 900.0 (700.0-1100.0) uM | Abnormal | Children (1-13 years old) | Both | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Urine | 5.0 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| Glycine (HMDB0000123) | Urine | 3000.0 (1000.0-5000.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Lysine (HMDB0000182) | Urine | 18.0 (7.0-29.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Lysine (HMDB0000182) | Urine | 2750.0 (500.0-5000.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Uracil (HMDB0000300) | Urine | 265.0 (30.0-500.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Glycine (HMDB0000123) | Urine | 50.266-146.448 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Lysine (HMDB0000182) | Urine | 1.0489-5.518 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
Cardiac arrest
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Prostaglandin F2a (HMDB0001139) | Blood | 0.0010 +/- 0.0002 uM | Abnormal | Adult (>18 years old) | Both | details |
| Prostaglandin F2a (HMDB0001139) | Blood | 0.0005 +/- 0.0001 uM | Abnormal | Adult (>18 years old) | Both | details |
| Prostaglandin F2a (HMDB0001139) | Blood | 0.0016 +/- 0.0004 uM | Abnormal | Adult (>18 years old) | Both | details |
| Prostaglandin F2a (HMDB0001139) | Blood | 0.0007 +/- 0.0001 uM | Abnormal | Adult (>18 years old) | Both | details |
Cardiopulmonary bypass
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Leukotriene B4 (HMDB0001085) | Blood | 0.00015 +/- 0.00005 uM | Abnormal | Infant (0-1 year old) | Both | details |
| Leukotriene B4 (HMDB0001085) | Blood | 0.00016 +/- 0.00006 uM | Abnormal | Infant (0-1 year old) | Both | details |
Cardiopulmonary resuscitation
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 6-Keto-prostaglandin F1a (HMDB0002886) | Blood | 0.00074 +/- 0.00017 uM | Abnormal | Adult (>18 years old) | Both | details |
| 6-Keto-prostaglandin F1a (HMDB0002886) | Blood | 0.00099 +/- 0.00027 uM | Abnormal | Adult (>18 years old) | Both | details |
Carnitine palmitoyltransferase I deficiency (255120 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| D-Glucose (HMDB0000122) | Blood | 1500 uM | Abnormal | Children (1-13 years old) | Male | details |
| D-Glucose (HMDB0000122) | Blood | <100 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | <100 uM | Abnormal | Children (1-13 years old) | Male | details |
| Hydrogen carbonate (HMDB0000595) | Blood | 7000-13000 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Ammonia (HMDB0000051) | Blood | 234 uM | Abnormal | Children (1-13 years old) | Female | details |
| L-Carnitine (HMDB0000062) | Blood | 12 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| L-Carnitine (HMDB0000062) | Blood | 15 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 1500 uM | Abnormal | Children (1-13 years old) | Male | details |
| alpha-D-Glucose (HMDB0003345) | Blood | <100 uM | Abnormal | Newborn (0-30 days old) | Male | details |
Carnitine transporter defect; primary systemic carnitine deficiency (212140 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| D-Glucose (HMDB0000122) | Blood | 390 uM | Abnormal | Infant (0-1 year old) | Female | details |
| L-Carnitine (HMDB0000062) | Blood | 0 uM | Abnormal | Infant (0-1 year old) | Female | details |
| L-Carnitine (HMDB0000062) | Blood | 0.7 uM | Abnormal | Infant (0-1 year old) | Female | details |
| L-Carnitine (HMDB0000062) | Blood | 4.2 uM | Abnormal | Children (1-13 years old) | Male | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 390 uM | Abnormal | Infant (0-1 year old) | Female | details |
| D-Glucose (HMDB0000122) | Cerebrospinal Fluid (CSF) | 200 uM | Abnormal | Infant (0-1 year old) | Female | details |
| alpha-D-Glucose (HMDB0003345) | Cerebrospinal Fluid (CSF) | 200 uM | Abnormal | Infant (0-1 year old) | Female | details |
| L-Carnitine (HMDB0000062) | Urine | 1.517 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Available | details |
Carnitine-acylcarnitine translocase deficiency (212138 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Sebacic acid (HMDB0000792) | Urine | 1.0 (0.0-2.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Sebacic acid (HMDB0000792) | Urine | 161.5 (57.0-266.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Adipic acid (HMDB0000448) | Urine | 91 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Adipic acid (HMDB0000448) | Urine | 21-160 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
| Dodecanedioic acid (HMDB0000623) | Urine | 37-63 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
| Sebacic acid (HMDB0000792) | Urine | 94 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Sebacic acid (HMDB0000792) | Urine | 57-266 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
| Suberic acid (HMDB0000893) | Urine | 74 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Suberic acid (HMDB0000893) | Urine | 28-116 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
Carnosinuria (212200 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Carnosine (HMDB0000033) | Urine | 56.56-113.1 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Not Specified | details |
| Carnosine (HMDB0000033) | Urine | 1.0 (0.0-2.2) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Carnosine (HMDB0000033) | Urine | 84.8 (56.5-113.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Celiac disease (212750 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Glycocholic acid (HMDB0000138) | Blood | 0.7 +/- 0.13 uM | Abnormal | Adult (>18 years old) | Both | details |
| Propionylcarnitine (HMDB0000824) | Blood | 0.247 +/- 0.014 uM | Abnormal | Adult (>18 years old) | Both | details |
| Butyrylcarnitine (HMDB0002013) | Blood | 0.152 +/- 0.011 uM | Abnormal | Adult (>18 years old) | Both | details |
| Isovalerylcarnitine (HMDB0000688) | Blood | 0.111 +/- 0.010 uM | Abnormal | Adult (>18 years old) | Both | details |
| Tiglylcarnitine (HMDB0002366) | Blood | 0.034 +/- 0.002 uM | Abnormal | Adult (>18 years old) | Both | details |
| Hexanoylcarnitine (HMDB0000756) | Blood | 0.060 +/- 0.004 uM | Abnormal | Adult (>18 years old) | Both | details |
| Octanoylcarnitine (HMDB0000791) | Blood | 0.086 +/- 0.006 uM | Abnormal | Adult (>18 years old) | Both | details |
| Decanoylcarnitine (HMDB0000651) | Blood | 0.103 +/- 0.008 uM | Abnormal | Adult (>18 years old) | Both | details |
| Dodecanoylcarnitine (HMDB0002250) | Blood | 0.032 +/- 0.002 uM | Abnormal | Adult (>18 years old) | Both | details |
| Palmitoylcarnitine (HMDB0000222) | Blood | 0.097 +/- 0.006 uM | Abnormal | Adult (>18 years old) | Both | details |
| Stearoylcarnitine (HMDB0000848) | Blood | 0.076 +/- 0.004 uM | Abnormal | Adult (>18 years old) | Both | details |
| Lactulose (HMDB0000740) | Blood | 0.46 (0.26-0.79) uM | Abnormal | Adult (>18 years old) | Both | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.1282 +/- 0.0583 uM | Abnormal | Not Specified | Both | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.0703 +/- 0.0254 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Tryptophan (HMDB0000929) | Cerebrospinal Fluid (CSF) | 2.035 +/- 0.649 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Pyridoxal 5'-phosphate (HMDB0001491) | Cerebrospinal Fluid (CSF) | 0.00243 +/- 0.00138 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.071 +/- 0.0268 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Tridecanol (HMDB0013316) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 1-Tridecene (HMDB0030930) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Ethylmethylacetic acid (HMDB0002176) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| (S)-2-Methylbutanoic acid (HMDB0033742) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| o-Cresol (HMDB0002055) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 3-Hexanone (HMDB0000753) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Ethyl pentyl ketone (HMDB0031295) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 3-Octen-2-one (HMDB0033547) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Methyl propenyl ketone (HMDB0001184) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 4-Heptanone (HMDB0004814) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| p-Cresol (HMDB0001858) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 4-Methylthiazole (HMDB0033116) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Benzaldehyde (HMDB0006115) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Decanal (HMDB0011623) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Dimethyldisulfide (HMDB0005879) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Dimethyl trisulfide (HMDB0013780) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 1-Methoxy-4-(2-propenyl)benzene (HMDB0034121) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Ethyl butyrate (HMDB0033889) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Hexanal (HMDB0005994) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Pentanone (HMDB0034235) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Toluene (HMDB0034168) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| L-Asparagine (HMDB0000168) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Histidine (HMDB0000177) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Methionine (HMDB0000696) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Proline (HMDB0000162) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Trimethylamine N-oxide (HMDB0000925) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| L-Tryptophan (HMDB0000929) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Tyramine (HMDB0000306) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Nonenal (HMDB0031269) | Feces | 0-121616.0674 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 1-Butanol (HMDB0004327) | Feces | 0-591010.807 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 1-Hydroxy-2-butanone (HMDB0031507) | Feces | 0-43811.312 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Octanol (HMDB0001183) | Feces | 0-243803.363 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| (R)-1-Octen-3-ol (HMDB0031299) | Feces | 0-443146.247 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Propyl alcohol (HMDB0000820) | Feces | 0-2792633.885 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 1,3-Di-tert-butylbenzene (HMDB0061923) | Feces | 0-367862.957 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Butanone (HMDB0000474) | Feces | 0-629584.994 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Decanone (HMDB0031409) | Feces | 0-49211.213 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Dodecanone (HMDB0031019) | Feces | 0-971941.307 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| (±)-2-Heptanol (HMDB0033908) | Feces | 0-51204.246 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Heptanone (HMDB0003671) | Feces | 0-479132.639 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Oxohexane (HMDB0005842) | Feces | 0-1158026.562 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| (S)-2-Methylbutanal (HMDB0031525) | Feces | 0-135527.942 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| (±)-2-Methylbutanal (HMDB0031526) | Feces | 0-135527.942 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Nonanol (HMDB0033916) | Feces | 0-15343.253 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Nonanone (HMDB0031266) | Feces | 0-141733.678 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Pentylfuran (HMDB0013824) | Feces | 0-41556.0535 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Acetone (HMDB0001659) | Feces | 0-188995.123 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Tridecanone (HMDB0034148) | Feces | 0-27981.561 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Undecanone (HMDB0033713) | Feces | 0-11059.448 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Diacetyl (HMDB0003407) | Feces | 0-1550872.0412 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Acetoin (HMDB0003243) | Feces | 0-3877982.0918 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Isovaleraldehyde (HMDB0006478) | Feces | 0-378681.0136 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Isovaleric acid (HMDB0000718) | Feces | 0-173762.570 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Sulcatone (HMDB0035915) | Feces | 0-470986.184 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Acetic acid (HMDB0000042) | Feces | 0-4321921.00180 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| (-)-alpha-Pinene (HMDB0035658) | Feces | 0-422410.460 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| (+)-alpha-Pinene (HMDB0006525) | Feces | 0-422398.0583 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Phenylacetaldehyde (HMDB0006236) | Feces | 0-82314.802 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| beta-Pinene (HMDB0036560) | Feces | 0-439598.350 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Butyl 2-methylbutanoate (HMDB0039216) | Feces | 0-61889.896 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Butyl propionate (HMDB0030052) | Feces | 0-232950.724 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Butyric acid (HMDB0000039) | Feces | 0-149026.560 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Carbon disulfide (HMDB0036574) | Feces | 0-3900045.0918 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Lauric aldehyde (HMDB0033933) | Feces | 0-11049.720 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| N-Dodecane (HMDB0031444) | Feces | 0-25068.277 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Ethanol (HMDB0000108) | Feces | 0-2534781.615 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Ethyl pentanoate (HMDB0040297) | Feces | 0-27704.186 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Ethyl acetate (HMDB0031217) | Feces | 0-350490.494 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Ethyl propionate (HMDB0030058) | Feces | 0-259044.613 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Furancarboxaldehyde (HMDB0032914) | Feces | 0-72471.234 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Heptanal (HMDB0031475) | Feces | 0-27878.613 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Hexadecane (HMDB0033792) | Feces | 0-105884.736 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Caproic acid (HMDB0000535) | Feces | 0-106090.855 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Indole (HMDB0000738) | Feces | 0-132368.285 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Isopentanol (HMDB0006007) | Feces | 0-185974.681 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Isobutyric acid (HMDB0001873) | Feces | 0-82477.253 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Isocaproic acid (HMDB0000689) | Feces | 0-11277.713 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Methyl butyrate (HMDB0033890) | Feces | 0-473702.0925 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Nonanal (HMDB0059835) | Feces | 0-175854.749 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Octanal (HMDB0001140) | Feces | 0-24412.691 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Octanoylcarnitine (HMDB0000791) | Feces | 0-11899.994 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Octyl acetate (HMDB0038602) | Feces | 0-20182.131 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Octyl butanoate (HMDB0034136) | Feces | 0-32132.275 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| p-Cresol (HMDB0001858) | Feces | 0-3012051.907 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Valeric acid (HMDB0000892) | Feces | 0-661531.467 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Phenol (HMDB0000228) | Feces | 0-16434.459 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Phenylethanol (HMDB0033944) | Feces | 0-71406.509 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Propionic acid (HMDB0000237) | Feces | 0-725626.644 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Propyl acetate (HMDB0034237) | Feces | 0-31201.543 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Propyl butyrate (HMDB0039618) | Feces | 0-264854.0653 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Propyl propionate (HMDB0030059) | Feces | 0-509764.118 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Styrene (HMDB0034240) | Feces | 0-315189.153 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Tetradecanal (HMDB0034283) | Feces | 0-202726.511 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Tetradecane (HMDB0059907) | Feces | 0-52808.974 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Tetradecanol (HMDB0011638) | Feces | 0-1246326.354 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Thiophene (HMDB0029718) | Feces | 0-49401.791 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Tridecanol (HMDB0013316) | Feces | 0-256720.210 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| alpha-Cubebene (HMDB0036413) | Feces | 0-41203.595 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| D-Citronellol (HMDB0035093) | Feces | 0-717668.852 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| L-Citronellol (HMDB0035094) | Feces | 0-717668.852 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Proline (HMDB0000162) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| L-Asparagine (HMDB0000168) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Histidine (HMDB0000177) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Tyramine (HMDB0000306) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Methionine (HMDB0000696) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Trimethylamine N-oxide (HMDB0000925) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| L-Tryptophan (HMDB0000929) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Proline (HMDB0000162) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| L-Asparagine (HMDB0000168) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Histidine (HMDB0000177) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Tyramine (HMDB0000306) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Methionine (HMDB0000696) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Trimethylamine N-oxide (HMDB0000925) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| L-Tryptophan (HMDB0000929) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Propyl propionate (HMDB0030059) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Ethyl acetate (HMDB0031217) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Octyl acetate (HMDB0038602) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Propyl butyrate (HMDB0039618) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Menthol (HMDB0003352) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Propyl alcohol (HMDB0000820) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Butanone (HMDB0000474) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| xi-2-Ethyl-1-hexanol (HMDB0031231) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 2-Hexanol (HMDB0061886) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 2-Pentylfuran (HMDB0013824) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Methyl isobutyl ketone (HMDB0002939) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Benzene (HMDB0001505) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| beta-Caryophyllene (HMDB0036792) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Hexadecane (HMDB0033792) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Nonadecane (HMDB0034289) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Nonanal (HMDB0059835) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Octanal (HMDB0001140) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Pentadecane (HMDB0059886) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Tetradecane (HMDB0059907) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Toluene (HMDB0034168) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Ethanol (HMDB0000108) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Phenol (HMDB0000228) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Chloroform (HMDB0029596) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Ethyl acetate (HMDB0031217) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 4-Methyl-3-penten-2-one, 9CI (HMDB0031563) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Octyl 2-methylbutyrate (HMDB0036219) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Carbon disulfide (HMDB0036574) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 1-Isopropyl-2-methylbenzene (HMDB0037050) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 2-Pentylthiophene (HMDB0040240) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Hemimellitene (HMDB0059901) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
Cerebral creatine deficiency syndrome 1 (300352 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Creatine (HMDB0000064) | Blood | 75 uM | Abnormal | Children (1-13 years old) | Male | details |
| Guanidoacetic acid (HMDB0000128) | Blood | 1.1 uM | Abnormal | Children (1-13 years old) | Male | details |
| Creatine (HMDB0000064) | Urine | 220 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
| Guanidoacetic acid (HMDB0000128) | Urine | 74 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |