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Browsing Serum Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
2-Ketoglutarate dehydrogenase complex deficiency (203740 )
Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
---|---|---|---|---|---|---|
Lactic acid (HMDB0000190) | 1430-11520 uM | Abnormal | Infant (0-1 year old) | Male | details | |
Pyruvic acid (HMDB0000243) | 60-240 uM | Abnormal | Infant (0-1 year old) | Male | details | |
Citric acid (HMDB0000094) | 71-107 uM | Abnormal | Children (1-13 years old) | Both | details | |
Lactic acid (HMDB0000190) | 1000-3580 uM | Abnormal | Children (1-13 years old) | Both | details | |
Oxoglutaric acid (HMDB0000208) | 17-37 uM | Abnormal | Children (1-13 years old) | Both | details | |
Pyruvic acid (HMDB0000243) | 102-230 uM | Abnormal | Children (1-13 years old) | Both | details | |
Acetoacetic acid (HMDB0000060) | 100 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
Acetoacetic acid (HMDB0000060) | 50-1280 uM | Abnormal | Children (1-13 years old) | Male | details | |
Lactic acid (HMDB0000190) | 7700 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
Lactic acid (HMDB0000190) | 1400-7800 uM | Abnormal | Children (1-13 years old) | Both | details | |
Pyruvic acid (HMDB0000243) | 270 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
Pyruvic acid (HMDB0000243) | 5-440 uM | Abnormal | Children (1-13 years old) | Both | details | |
3-Hydroxybutyric acid (HMDB0000011) | 100 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
3-Hydroxybutyric acid (HMDB0000011) | 120-2000 uM | Abnormal | Children (1-13 years old) | Male | details | |
Hydrogen carbonate (HMDB0000595) | 15000 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
Hydrogen carbonate (HMDB0000595) | 11000-21000 uM | Abnormal | Children (1-13 years old) | Both | details |
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (246450 )
Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
---|---|---|---|---|---|---|
Ammonia (HMDB0000051) | 13446.464-63415.637 uM | Abnormal | Children (1 - 13 years old) | Both | details | |
Ammonia (HMDB0000051) | 231(96-780) uM | Abnormal | Adult (>18 years old) | Both | details | |
Lactic acid (HMDB0000190) | 10000 uM | Abnormal | Infant (0-1 year old) | Male | details | |
Pyruvic acid (HMDB0000243) | 500 uM | Abnormal | Infant (0-1 year old) | Male | details | |
D-Glucose (HMDB0000122) | 900-2200 uM | Abnormal | Infant (0-1 year old) | Both | details | |
Pyruvic acid (HMDB0000243) | 400-40200 uM | Abnormal | Newborn (0-30 days old) | Both | details | |
Ammonia (HMDB0000051) | 85-835 uM | Abnormal | Infant (0-1 year old) | Both | details | |
D-Glucose (HMDB0000122) | 200-2200 uM | Abnormal | Newborn (0-30 days old) | Both | details | |
Lactic acid (HMDB0000190) | 10000-37900 uM | Abnormal | Newborn (0-30 days old) | Both | details | |
Ammonia (HMDB0000051) | 105-500 uM | Abnormal | Newborn (0-30 days old) | Both | details | |
D-Glucose (HMDB0000122) | 2300 uM | Abnormal | Infant (0-1 year old) | Female | details | |
3-Hydroxybutyric acid (HMDB0000011) | 64 uM | Abnormal | Infant (0-1 year old) | Female | details | |
3-Hydroxyisovalerylcarnitine (HMDB0061189) | 5.05 uM | Abnormal | Adult (>18 years old) | Female | details | |
L-Carnitine (HMDB0000062) | 17 uM | Abnormal | Adult (>18 years old) | Male | details | |
D-Glucose (HMDB0000122) | 166.522 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
Hydrogen carbonate (HMDB0000595) | 16900 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
Lactic acid (HMDB0000190) | 3140 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
Cortisol (HMDB0000063) | 0.353 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
Ammonia (HMDB0000051) | 63 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
3-Methylglutarylcarnitine (HMDB0000552) | 0.76 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
3-Hydroxyisovalerylcarnitine (HMDB0061189) | 7.78 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
L-Carnitine (HMDB0000062) | 20.540 +/- 1.850 uM | Abnormal | Children (1-13 years old) | Not Specified | details | |
3-Hydroxyisovalerylcarnitine (HMDB0061189) | 4.81 +/- 0.47 uM | Abnormal | Children (1 - 13 years old) | Not Specified | details | |
3-Hydroxyisovalerylcarnitine (HMDB0061189) | 5.05 uM | Abnormal | Adult (>18 years old) | Female | details | |
alpha-D-Glucose (HMDB0003345) | 2300 uM | Abnormal | Infant (0-1 year old) | Female | details | |
alpha-D-Glucose (HMDB0003345) | 166.522 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
alpha-D-Glucose (HMDB0003345) | 900-2200 uM | Abnormal | Infant (0-1 year old) | Both | details | |
alpha-D-Glucose (HMDB0003345) | 200-2200 uM | Abnormal | Newborn (0-30 days old) | Both | details |
3-Methylglutaconic aciduria type I (250950 )
Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
---|---|---|---|---|---|---|
3-Hydroxyisovaleric acid (HMDB0000754) | 10.0 (10.0 - 20.0) uM | Abnormal | Adult (>18 years old) | Both | details | |
3-Hydroxyisovaleric acid (HMDB0000754) | 20 uM | Abnormal | Adult (>18 years old) | Female | details |
3-Phosphoglycerate dehydrogenase deficiency (601815 )
Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
---|---|---|---|---|---|---|
Glycine (HMDB0000123) | 175-252 uM | Abnormal | Adolescent (13-18 years old) | Both | details | |
Serine (HMDB0000187) | 56-63 uM | Abnormal | Adolescent (13-18 years old) | Both | details |