Browsing CSF Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 49 - 52 of 172 in total
Smith-Lemli-Opitz syndrome (270400 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| 7-Dehydrocholesterol (HMDB0000032) | 0.3 +/- 0.2 (0.1 - 0.6) uM | Abnormal | Infant (0-1 year old) | Both | details | |
| 8-Dehydrocholesterol (HMDB0002027) | 0.3 +/- 0.1 (0.2 - 0.5) uM | Abnormal | Infant (0-1 year old) | Not Specified | details | |
| Cholesterol (HMDB0000067) | 1.1 uM | Abnormal | Infant (0-1 year old) | Both | details |
Cortical myoclonus
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Vanylglycol (HMDB0001490) | 0.0039 uM | Abnormal | Adult (>18 years old) | Both | details |
Aromatic L-amino acid decarboxylase deficiency (608643 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Vanylglycol (HMDB0001490) | 0.003 +/- 0.003 uM | Abnormal | Adult (>18 years old) | Both | details | |
| 3-Methoxytyrosine (HMDB0001434) | 1.2 (1.0-1.6) uM | Abnormal | Adult (>18 years old) | Not Specified | details | |
| 3-Methoxytyrosine (HMDB0001434) | 1.2 +/- 0.0 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | 0.0025 (0.0000-0.0050) uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Homovanillic acid (HMDB0000118) | 0.083 +/- 0.000 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Vanylglycol (HMDB0001490) | 0.003 (0.000-0.005) uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Homovanillic acid (HMDB0000118) | 0.128 uM | Abnormal | Infant (0-1 year old) | Female | details | |
| Homovanillic acid (HMDB0000118) | 0.0820-0.149 uM | Abnormal | Children (1-13 years old) | Female | details | |
| 5-Hydroxy-L-tryptophan (HMDB0000472) | 0.063 uM | Abnormal | Infant (0-1 year old) | Female | details | |
| 5-Hydroxy-L-tryptophan (HMDB0000472) | 0.0970-0.136 uM | Abnormal | Children (1-13 years old) | Female | details | |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | 0.027 uM | Abnormal | Infant (0-1 year old) | Female | details | |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | 0.0120-0.0220 uM | Abnormal | Children (1-13 years old) | Female | details |
Hyperargininemia (207800 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Homo-L-arginine (HMDB0000670) | 1.16 uM | Abnormal | Adult (>18 years old) | Both | details | |
| L-Arginine (HMDB0000517) | 58.78 (0.0-117.56) uM | Abnormal | Adult (>18 years old) | Both | details | |
| N-a-Acetyl-L-arginine (HMDB0004620) | 0.5 (0.0-1.0) uM | Abnormal | Adult (>18 years old) | Not Specified | details |