Disorder | Abnormal metabolite(s)* |
Organic acidemias | |
Methylmalonic acidemia | Methylmalonic and methylcitric acids |
Propionic acidemia | 3-hydroxypropionic acid, propionylglycine, methylcitric acid |
Isovaleric acidemia | Isovalerylglycine |
Glutaric acidemia type I | Glutaric, 3-hydroxyglutaric, dicarboxylic acids, and acylglycine |
3-methylglutaconic aciduria | 3-methylglutaconic acid |
2-hydroxy-3-methylbutyryl-CoA dehydrogenase deficiency | 2-hydroxy-3-methylblutyric acid, tiglyglycine, 2-ethylhydracrylic acid |
2-hydroxyglutaric aciduria | 2-hydroxyglutaric acid |
Disorders of ketogenesis | |
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency | Hexanoylglycine and suberylglycine |
3-ketothiolase deficiency | 2-hydroxy-3-methylbutyric acid, tiglyglycine, 2-methyl-3-hydroxyacetoacetic acid |
3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency | 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-methylglutaconic acids |
Other disorders | |
Canavan disease | N-acetylaspartic acid |
Glutaric acidemia type II (multiple acyl-CoA dehydrogenase deficiency) | Glutaric and 2-hydroxyglutaric acids |
Mevalonate kinase deficiency | Mevalonic acid |
Maple syrup urine disease | 2-hydroxyisovaleric, 2-hydroxy-3-methylvaleric, and 2-ketoisocaproic acids |
Phenylketonuria | Phenylpyruvic and phenyllactic acids |
Fumarase deficiency | Fumaric acid |
Glutathione synthetase deficiency | 5-oxoproline (pyroglutamic acid) |
Biotinidase deficiency¶ | 3-hydroxyisovaleric acid, methylcitric acid, 3-methylcrotonylglycine, propionylglycine |
Holocarboxylase synthetase deficiency¶ | 3-hydroxyisovaleric acid, methylcitric acid, 3-methylcrotonylglycine, propionylglycine |
Glycerol kinase deficiency | Glycerol |
Ethylmalonic encephalopathy | Ethylmalonic and methylsuccinic acids |
Disorders of uncertain consequence | |
3-methylcrotonyl-CoA carboxylase deficiency | 3-methylcrotonylglycine |
Short chain acyl-CoA dehydrogenase deficiency | Ethylmalonic acid, butyrylglycine |
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