Browsing Serum Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 389 - 392 of 479 in total
Mitochondrial phosphate carrier deficiency (610773 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | 4000-14000 uM | Abnormal | Newborn (0-30 days old) | Female | details |
Mitochondrial pyruvate carrier deficiency (614741 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Pyruvic acid (HMDB0000243) | 800-900 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
| Lactic acid (HMDB0000190) | 7000-8000 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
| L-Alanine (HMDB0000161) | 233-331 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
| Proline (HMDB0000162) | 149-233 uM | Abnormal | Newborn (0-30 days old) | Female | details |
Pyruvate carboxylase deficiency (266150 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Ammonia (HMDB0000051) | 70 uM | Abnormal | Children (1-13 years old) | Not Available | details | |
| Ammonia (HMDB0000051) | 268 uM | Abnormal | Infant (0-1 year old) | Not Available | details | |
| L-Alanine (HMDB0000161) | 958 uM | Abnormal | Infant (0-1 year old) | Not Available | details | |
| Proline (HMDB0000162) | 801 uM | Abnormal | Infant (0-1 year old) | Not Available | details | |
| Lysine (HMDB0000182) | 713 uM | Abnormal | Infant (0-1 year old) | Not Available | details | |
| Lactic acid (HMDB0000190) | 11300 uM | Abnormal | Children (1-13 years old) | Not Available | details | |
| Lactic acid (HMDB0000190) | 17000 uM | Abnormal | Infant (0-1 year old) | Not Available | details | |
| L-Alanine (HMDB0000161) | 298 uM | Abnormal | Children (1-13 years old) | Not Available | details | |
| Proline (HMDB0000162) | 114 uM | Abnormal | Children (1-13 years old) | Not Available | details | |
| Lysine (HMDB0000182) | 136 uM | Abnormal | Children (1-13 years old) | Not Available | details |
Pyruvate dehydrogenase deficiency (E1)
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | 9900 +/- 8200 uM | Abnormal | Children (1-13 years old) | Both | details | |
| Pyruvic acid (HMDB0000243) | 670 +/- 990 uM | Abnormal | Children (1-13 years old) | Both | details |