5C50.E1Ангилал
Cerebral organic aciduria
Тодорхойлолт
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.
Индексийн нэр томьёо Index terms · 21
Cerebral organic aciduriaGlutaric aciduria type 1Glutaric acidaemia type 1Glutaryl-CoA dehydrogenase deficiency2-hydroxyglutaric aciduriaL-2-hydroxyglutaric aciduriaD-2-hydroxyglutaric aciduriaD-2-hydroxyglutarate dehydrogenase deficiencyMitochondrial isocitrate dehydrogenase deficiencyAminoacylase deficiencyNeurological conditions associated with aminoacylase 1 deficiencyCanavan diseaseSpongy degeneration of central nervous systemAspartoacylase deficiencyCanavan-van Bogaert-Bertrand diseaseMalonic aciduriaMalonyl-CoA decarboxylase deficiencyEthylmalonic encephalopathy4-hydroxybutyric aciduriaSuccinic semialdehyde dehydrogenase deficiencyGamma-hydroxybutyric acidaemia
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