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 |
|---|
Sarcosinemia (268900 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Glycine (HMDB0000123) | 354.6 uM | Abnormal | Infant (0-1 year old) | Female | details | |
| Glycine (HMDB0000123) | 254-310 uM | Abnormal | Adult (>18 years old) | Male | details | |
| Serine (HMDB0000187) | 222.4 uM | Abnormal | Infant (0-1 year old) | Female | details | |
| Serine (HMDB0000187) | 116-145 uM | Abnormal | Adult (>18 years old) | Male | details | |
| Sarcosine (HMDB0000271) | 300.0 (80.0-603.0) uM | Abnormal | Children (1-13 years old) | Both | details | |
| Sarcosine (HMDB0000271) | 654.1 uM | Abnormal | Infant (0-1 year old) | Female | details | |
| Sarcosine (HMDB0000271) | 200-300 uM | Abnormal | Children (1-13 years old) | Female | details | |
| Sarcosine (HMDB0000271) | 238-379 uM | Abnormal | Adult (>18 years old) | Male | details |
Maple syrup urine disease (248600 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| L-Alloisoleucine (HMDB0000557) | 127 +/- 1 uM | Abnormal | Children (1-13 years old) | Both | details | |
| alpha-Ketoisovaleric acid (HMDB0000019) | 237 uM | Abnormal | Children (1-13 years old) | Female |
| details |
| Isoleucine (HMDB0000172) | 477 uM | Abnormal | Children (1-13 years old) | Female |
| details |
| Leucine (HMDB0000687) | 1694 uM | Abnormal | Children (1-13 years old) | Female |
| details |
| L-Valine (HMDB0000883) | 844 uM | Abnormal | Children (1-13 years old) | Female |
| details |
| Isoleucine (HMDB0000172) | 492 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
| Isoleucine (HMDB0000172) | 237-794 uM | Abnormal | Newborn (0-30 days old) | Both | details | |
| Isoleucine (HMDB0000172) | 99.0 +/- 65.3 uM | Abnormal | Children (1 - 13 years old) | Not Specified | details | |
| 2-Hydroxy-3-methylpentanoic acid (HMDB0000317) | 46.6 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
| 2-Hydroxy-3-methylbutyric acid (HMDB0000407) | 1237 uM | Abnormal | Infant (0-1 year old) | Female | details | |
| 3-Methyl-2-oxovaleric acid (HMDB0000491) | 368 uM | Abnormal | Children (1-13 years old) | Female |
| details |
| L-Alloisoleucine (HMDB0000557) | 25.6 +/- 14.0 uM | Abnormal | Children (1 - 13 years old) | Not Specified | details | |
| Leucine (HMDB0000687) | 365.9 +/- 287.9 uM | Abnormal | Children (1 - 13 years old) | Not Specified | details | |
| Ketoleucine (HMDB0000695) | 1918 uM | Abnormal | Children (1-13 years old) | Female |
| details |
| Hydroxyisocaproic acid (HMDB0000746) | 14 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
| L-Valine (HMDB0000883) | 197.7 +/- 184.2 uM | Abnormal | Children (1 - 13 years old) | Not Specified | details | |
| Phenylalanine (HMDB0000159) | 98.0 - 113.0 uM | Abnormal | Newborn (0-30 days old) | Both | details | |
| Isoleucine (HMDB0000172) | 6100.00 (200.00-12000.00) uM | Abnormal | Children (1-13 years old) | Both |
| details |
| 3-Methyl-2-oxovaleric acid (HMDB0000491) | 142.0 +/- 9.0 uM | Abnormal | Adult (>18 years old) | Both | details | |
| Leucine (HMDB0000687) | 643.0 - 667.0 uM | Abnormal | Newborn (0-30 days old) | Both | details | |
| L-Valine (HMDB0000883) | 356.0 - 541.0 uM | Abnormal | Newborn (0-30 days old) | Both | details |
3-Methyl-crotonyl-glycinuria (210200 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| D-Glucose (HMDB0000122) | 1750.0 (500.0-3000.0) uM | Abnormal | Children (1-13 years old) | Both |
| details |
| Ammonia (HMDB0000051) | 200.0 (100.0-300.0) uM | Abnormal | Children (1-13 years old) | Both |
| details |
| Ammonia (HMDB0000051) | 52.5 (25.0-80.0) uM | Abnormal | Adult (>18 years old) | Both |
| details |
| D-Glucose (HMDB0000122) | 4400.0 (3300.0-5500.0) uM | Abnormal | Adult (>18 years old) | Both |
| details |
| Glycine (HMDB0000123) | 290 uM | Abnormal | Children (1 - 13 years old) | Female | details | |
| L-Acetylcarnitine (HMDB0000201) | 800 +/- 200 uM | Abnormal | Adult (>18 years old) | Both | details | |
| 3-Hydroxyisovalerylcarnitine (HMDB0061189) | 0.12-4.16 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details | |
| 3-Hydroxyisovalerylcarnitine (HMDB0061189) | 10100 +/- 4800 uM | Abnormal | Adult (>18 years old) | Both | details | |
| alpha-D-Glucose (HMDB0003345) | 4400.0 (3300.0-5500.0) uM | Abnormal | Adult (>18 years old) | Both |
| details |
| alpha-D-Glucose (HMDB0003345) | 1750.0 (500.0-3000.0) uM | Abnormal | Children (1-13 years old) | Both |
| details |