Browsing Serum Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 297 - 300 of 479 in total
Saccharopinuria (268700 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Isoleucine (HMDB0000172) | 103 uM | Abnormal | Children (1-13 years old) | Female | details |
Apparent mineralocorticoid excess (218030 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Cortisol (HMDB0000063) | 0.135 uM | Abnormal | Children (1-13 years old) | Female | details | |
| Potassium (HMDB0000586) | 2700 uM | Abnormal | Infant (0-1 year old) | Female | details |
2-Ketoglutarate dehydrogenase complex deficiency (203740 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | 1430-11520 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Pyruvic acid (HMDB0000243) | 60-240 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Citric acid (HMDB0000094) | 71-107 uM | Abnormal | Children (1-13 years old) | Both | details | |
| Lactic acid (HMDB0000190) | 1000-3580 uM | Abnormal | Children (1-13 years old) | Both | details | |
| Oxoglutaric acid (HMDB0000208) | 17-37 uM | Abnormal | Children (1-13 years old) | Both | details | |
| Pyruvic acid (HMDB0000243) | 102-230 uM | Abnormal | Children (1-13 years old) | Both | details | |
| Acetoacetic acid (HMDB0000060) | 100 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
| Acetoacetic acid (HMDB0000060) | 50-1280 uM | Abnormal | Children (1-13 years old) | Male | details | |
| Lactic acid (HMDB0000190) | 7700 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
| Lactic acid (HMDB0000190) | 1400-7800 uM | Abnormal | Children (1-13 years old) | Both | details | |
| Pyruvic acid (HMDB0000243) | 270 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
| Pyruvic acid (HMDB0000243) | 5-440 uM | Abnormal | Children (1-13 years old) | Both | details | |
| 3-Hydroxybutyric acid (HMDB0000011) | 100 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
| 3-Hydroxybutyric acid (HMDB0000011) | 120-2000 uM | Abnormal | Children (1-13 years old) | Male | details | |
| Hydrogen carbonate (HMDB0000595) | 15000 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
| Hydrogen carbonate (HMDB0000595) | 11000-21000 uM | Abnormal | Children (1-13 years old) | Both | details |
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (201750 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Cortisol (HMDB0000063) | 0.434-0.654 uM | Abnormal | Infant (0-1 year old) | Both | details | |
| Dehydroepiandrosterone (HMDB0000077) | 0.00240-0.00830 uM | Abnormal | Infant (0-1 year old) | Both | details | |
| 17a-Hydroxypregnenolone (HMDB0000363) | 0.0120-0.180 uM | Abnormal | Infant (0-1 year old) | Both | details | |
| 17-Hydroxyprogesterone (HMDB0000374) | 0.0147-0.0420 uM | Abnormal | Infant (0-1 year old) | Both | details | |
| Progesterone (HMDB0001830) | 0.0108-0.119 uM | Abnormal | Infant (0-1 year old) | Both | details | |
| Cholesterol (HMDB0000067) | 4250.0585 +/- 658.471 uM | Abnormal | Adult (>18 years old) | Both | details |