Browsing Serum Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 353 - 356 of 479 in total
Branched-chain Keto Acid Dehydrogenase Kinase Deficiency (614923 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Isoleucine (HMDB0000172) | 10-23 uM | Abnormal | Adolescent (13-18 years old) | Female | details | |
| Isoleucine (HMDB0000172) | 10-26 uM | Abnormal | Adult (>18 years old) | Female | details | |
| Isoleucine (HMDB0000172) | 9-57 uM | Abnormal | Children (1-13 years old) | Both | details | |
| Leucine (HMDB0000687) | 18-46 uM | Abnormal | Adolescent (13-18 years old) | Female | details | |
| Leucine (HMDB0000687) | 20-46 uM | Abnormal | Adult (>18 years old) | Female | details | |
| Leucine (HMDB0000687) | 15-113 uM | Abnormal | Children (1-13 years old) | Both | details | |
| L-Valine (HMDB0000883) | 44-89 uM | Abnormal | Adolescent (13-18 years old) | Female | details | |
| L-Valine (HMDB0000883) | 57-86 uM | Abnormal | Adult (>18 years old) | Female | details | |
| L-Valine (HMDB0000883) | 32-147.300 uM | Abnormal | Children (1-13 years old) | Both | details | |
| Glycolic acid (HMDB0000115) | 0 uM | Abnormal | Adult (>18 years old) | Female | details | |
| Glycolic acid (HMDB0000115) | 0 uM | Abnormal | Adolescent (13-18 years old) | Female | details | |
| Ketoleucine (HMDB0000695) | 0 uM | Abnormal | Adult (>18 years old) | Female | details | |
| Ketoleucine (HMDB0000695) | 0 uM | Abnormal | Adolescent (13-18 years old) | Female | details | |
| Hydroxypropionic acid (HMDB0000700) | 1 uM | Abnormal | Adult (>18 years old) | Female | details | |
| Hydroxypropionic acid (HMDB0000700) | 0 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
Brown-Vialetto-Van Laere Syndrome 1 (211530 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Creatinine (HMDB0000562) | 35.361 uM | Abnormal | Adolescent (13-18 years old) | Not Available | details | |
| Riboflavin (HMDB0000244) | 0.00502 uM | Abnormal | Adolescent (13-18 years old) | Not Available | details |
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 |
Cerebral creatine deficiency syndrome 1 (300352 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Creatine (HMDB0000064) | 75 uM | Abnormal | Children (1-13 years old) | Male | details | |
| Guanidoacetic acid (HMDB0000128) | 1.1 uM | Abnormal | Children (1-13 years old) | Male | details |