Browsing CSF Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 121 - 124 of 172 in total
ATIC deficiency (608688 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| SAICAR (HMDB0000797) | Not Quantified | Abnormal | Children (1-13 years old) | Female | details |
Sarcosinemia (268900 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Glycine (HMDB0000123) | 6-7 uM | Abnormal | Adult (>18 years old) | Male | details | |
| Serine (HMDB0000187) | 28-32 uM | Abnormal | Adult (>18 years old) | Male | details | |
| Sarcosine (HMDB0000271) | 5-17 uM | Abnormal | Children (1-13 years old) | Male |
| details |
| Sarcosine (HMDB0000271) | 7-12 uM | Abnormal | Adult (>18 years old) | Male | details |
Maple syrup urine disease (248600 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| 2-Hydroxy-3-methylpentanoic acid (HMDB0000317) | 17 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
| 2-Hydroxy-3-methylbutyric acid (HMDB0000407) | 809 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
| Hydroxyisocaproic acid (HMDB0000746) | 12.9 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
| alpha-Ketoisovaleric acid (HMDB0000019) | 189 uM | Abnormal | Children (1-13 years old) | Female |
| details |
| Isoleucine (HMDB0000172) | 338 uM | Abnormal | Children (1-13 years old) | Female |
| details |
| Isoleucine (HMDB0000172) | 216 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
| 3-Methyl-2-oxovaleric acid (HMDB0000491) | 101 uM | Abnormal | Children (1-13 years old) | Female |
| details |
| Leucine (HMDB0000687) | 892 uM | Abnormal | Children (1-13 years old) | Female |
| details |
| Ketoleucine (HMDB0000695) | 483 uM | Abnormal | Children (1-13 years old) | Female |
| details |
| L-Valine (HMDB0000883) | 359 uM | Abnormal | Children (1-13 years old) | Female |
| details |
3-Methyl-crotonyl-glycinuria (210200 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Hypoxanthine (HMDB0000157) | 5.2 uM | Abnormal | Children (1 - 13 years old) | Not Specified | details | |
| Pyruvic acid (HMDB0000243) | 49 uM | Abnormal | Children (1 - 13 years old) | Not Specified | details | |
| Uric acid (HMDB0000289) | 35.7 uM | Abnormal | Children (1 - 13 years old) | Not Specified | details | |
| Xanthine (HMDB0000292) | 19.6 uM | Abnormal | Children (1 - 13 years old) | Not Specified | details | |
| 3-Hydroxyisovaleric acid (HMDB0000754) | 12 uM | Abnormal | Children (1 - 13 years old) | Not Specified | details |