5C50.E1
category
Cerebral organic aciduria
Definition
This is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino acids, causing a buildup of acids which are usually not present.
Also indexed as
2-hydroxyglutaric aciduria4-hydroxybutyric aciduriaAminoacylase deficiencyAspartoacylase deficiencyCanavan diseaseCanavan-van Bogaert-Bertrand diseaseCerebral organic aciduriaD-2-hydroxyglutarate dehydrogenase deficiencyD-2-hydroxyglutaric aciduriaEthylmalonic encephalopathyGamma-hydroxybutyric acidaemiaGlutaric acidaemia type 1Glutaric aciduria type 1Glutaryl-CoA dehydrogenase deficiencyL-2-hydroxyglutaric aciduriaMalonic aciduriaMalonyl-CoA decarboxylase deficiencyMitochondrial isocitrate dehydrogenase deficiencyNeurological conditions associated with aminoacylase 1 deficiencySpongy degeneration of central nervous systemSuccinic semialdehyde dehydrogenase deficiency