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Browsing Serum Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Succinic semialdehyde dehydrogenase deficiency (271980 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| 4-Hydroxybutyric acid (HMDB0000710) | 2110-2920 uM | Abnormal | Infant (0-1 year old) | Male | details |
6-Pyruvoyltetrahydropterin synthase deficiency (261640 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| L-Phenylalanine (HMDB0000159) | 360-1200 uM | Abnormal | Newborn (0-30 days old) | Both | details |
Abetalipoproteinemia (200100 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| LacCer(d18:1/12:0) (HMDB0004866) | 3.0 (2.9-3.3) uM | Abnormal | Adult (>18 years old) | Both | details | |
| Cholesterol (HMDB0000067) | 2190 uM | Abnormal | Adult (>18 years old) | Male | details | |
| alpha-Tocopherol (HMDB0001893) | 0.00302 uM | Abnormal | Adult (>18 years old) | Male | details | |
| Vitamin A (HMDB0000305) | 0.45 uM | Abnormal | Adult (>18 years old) | Male | details | |
| Glucosylceramide (HMDB0000140) | 4.0 (3.9-4.4) uM | Abnormal | Adult (>18 years old) | Both | details | |
| Ganglioside GM3 (d18:1/16:0) (HMDB0004844) | 4.0 (3.0-5.2) uM | Abnormal | Adult (>18 years old) | Both | details | |
| Trihexosylceramide (d18:1/12:0) (HMDB0004877) | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both | details | |
| Trihexosylceramide (d18:1/18:0) (HMDB0004880) | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both | details | |
| Trihexosylceramide (d18:1/22:0) (HMDB0004882) | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both | details | |
| Trihexosylceramide (d18:1/26:1(17Z)) (HMDB0004884) | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both | details | |
| Trihexosylceramide (d18:1/24:0) (HMDB0004886) | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both | details | |
| Tetrahexosylceramide (d18:1/12:0) (HMDB0004958) | 1.5 (1.0-2.2) uM | Abnormal | Adult (>18 years old) | Both | details |
Acrodermatitis enteropathica (201100 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Zinc (HMDB0015532) | 3.516 uM | Abnormal | Children (1-13 years old) | Male | details |