Browsing Serum Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 369 - 372 of 479 in total
Carnitine transporter defect; primary systemic carnitine deficiency (212140 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| L-Carnitine (HMDB0000062) | 0 uM | Abnormal | Infant (0-1 year old) | Female | details | |
| L-Carnitine (HMDB0000062) | 0.7 uM | Abnormal | Infant (0-1 year old) | Female | details | |
| L-Carnitine (HMDB0000062) | 4.2 uM | Abnormal | Children (1-13 years old) | Male | details | |
| D-Glucose (HMDB0000122) | 390 uM | Abnormal | Infant (0-1 year old) | Female | details | |
| alpha-D-Glucose (HMDB0003345) | 390 uM | Abnormal | Infant (0-1 year old) | Female | details |
Guanosine triphosphate cyclohydrolase deficiency (233910 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Phenylalanine (HMDB0000159) | 1000-2400 uM | Abnormal | Newborn (0-30 days old) | Male | details |
Myopathy with lactic acidosis, hereditary (255125 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | 1400 (900-1800) uM | Abnormal | Adult (>18 years old) | Both | details | |
| Pyruvic acid (HMDB0000243) | 150 (120-170) uM | Abnormal | Adult (>18 years old) | Both | details | |
| Lactic acid (HMDB0000190) | 8600 (6700-13600) uM | Abnormal | Adult (>18 years old) | Both | details | |
| Pyruvic acid (HMDB0000243) | 1090 (650-1520) uM | Abnormal | Adult (>18 years old) | Both | details | |
| Lactic acid (HMDB0000190) | 5100 (3500-6400) uM | Abnormal | Adult (>18 years old) | Both | details | |
| Pyruvic acid (HMDB0000243) | 710 uM | Abnormal | Adult (>18 years old) | Both | details |
GRACILE syndrome (603358 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Pyruvic acid (HMDB0000243) | 120(80-160) uM | Abnormal | Infant (0-1 year old) | Both | details | |
| Lactic acid (HMDB0000190) | 11800 (6500-19900) uM | Abnormal | Infant (0-1 year old) | Both | details |