Browse the corpus

©2013 UpToDate ® Print Email Abnormal metabolites Disorder Abnormal Metabolite(s)* Organic acidemias Methylmalonic acidemia Methylmalonic & methylcitric acids Propionic acidemia 3-Hydroxypropionic acid, propionylglycine, methylcitric acid Isovaleric acidemia Isovalerylglycine Glutaric acidemia type I Glutaric, 3-hydroxyglutaric, & dicarboxylic acids & 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 & 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 & 3-methylglutaconic acids Other disorders Canavan disease N-acetylaspartic acid Glutaric acidemia type II (Multiple acyl-CoA dehydrogenase deficiency) Glutaric & 2-hydroxyglutaric acids Mevalonate kinase deficiency Mevalonic acid Maple syrup urine disease 2-Hydroxyisovaleric, 2-hydroxy-3-methylvaleric, & 2-ketoisocaproic acids Phenylketonuria Phenylpyruvic & 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 & methylsuccinic acids Disorders of uncertain consequence 3-methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonylglycine Short chain acyl-CoA dehydrogenase deficiency Ethylmalonic acid, butyrylglycine * Other abnormal metabolites may be seen in these disorders but these listed are the most characteristic for the diagnosis. • Diagnosis by urine organic acid analysis is unreliable. Courtesy of V Reid Sutton, MD.