Browsing Serum Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 433 - 436 of 479 in total
Mitochondrial phosphate carrier deficiency (610773 )
Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
---|---|---|---|---|---|---|
Lactic acid (HMDB0000190) | 4000-14000 uM | Abnormal | Newborn (0-30 days old) | Female | details |
Mitochondrial pyruvate carrier deficiency (614741 )
Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
---|---|---|---|---|---|---|
Pyruvic acid (HMDB0000243) | 800-900 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
Lactic acid (HMDB0000190) | 7000-8000 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
L-Alanine (HMDB0000161) | 233-331 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
Proline (HMDB0000162) | 149-233 uM | Abnormal | Newborn (0-30 days old) | Female | details |
Mitochondrial trifunctional protein deficiency (609015 )
Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
---|---|---|---|---|---|---|
Lactic acid (HMDB0000190) | 3700-36000 uM | Abnormal | Infant (0-1 year old) | Not Available | details | |
Ammonia (HMDB0000051) | 140-503 uM | Abnormal | Infant (0-1 year old) | Not Available | details | |
D-Glucose (HMDB0000122) | 700-2600 uM | Abnormal | Infant (0-1 year old) | Not Specified | details | |
Calcium (HMDB0000464) | 1290-1860 uM | Abnormal | Infant (0-1 year old) | Not Available | details | |
L-Carnitine (HMDB0000062) | 10-21 uM | Abnormal | Infant (0-1 year old) | Not Available | details | |
alpha-D-Glucose (HMDB0003345) | 700-2600 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
Mitochondrial-encephalopathy-lactic acidosis-stroke (540000 )
Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
---|---|---|---|---|---|---|
Lactic acid (HMDB0000190) | 4500-9800 uM | Abnormal | Children (1-13 years old) | Both | details |