5C50.E0
category
Classical organic aciduria
Definition
This 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-methylbutyric aciduria2-methylbutyryl glycinuria3-hydroxy-3-methylglutaric aciduria3-hydroxyisobutyrate dehydrogenase deficiency3-hydroxyisobutyric aciduria3-methylcrotonyl-CoA carboxylase deficiency3-methylcrotonylglycinuria3-methylglutaconic aciduria3-methylglutaconic aciduria type 13-methylglutaconic aciduria type 23-methylglutaconic aciduria type 33-methylglutaconic aciduria type 43-methylglutaconic aciduria type 53-methylglutaconic aciduria with normal3 -methylglutaconyl-Co A hydratase3-methylglutaconyl-CoA hydratase deficiency3MG-CoA hydratase deficiencyAdenosylcobalamin deficiencyAutosomal recessive optic atrophy type 3Barth syndromeBeta-hydroxyisobutyryl-CoA deacylase deficiencyCardioskeletal myopathy-neutropaeniaClassical organic aciduriaComplete deficiency of methylmalonyl-CoA mutaseCosteff optic atrophy syndromeCosteff syndromeDCMA - [Dilated cardiomyopathy with ataxia] syndromeDevelopmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiencyDilated cardiomyopathy with ataxiaGlutaric acidaemia type 3Glutaric aciduria type 3Glutaryl-CoA oxidase deficiencyHyperglycinaemia with ketosis and leucopaeniaInfantile optic atrophy with chorea and spastic paraplegiaIsobutyric acidaemiaIsobutyric aciduriaIsobutyryl-CoA dehydrogenase deficiencyIsovaleric acid CoA dehydrogenase deficiencyIsovaleric acidaemiaIsovaleric aciduriaKetotic glycinaemiaKetotic hyperglycinaemiaMCC - [methylcrotonyl-CoA carboxylase] deficiencyMCCD - [methylcrotonyl-CoA carboxylase deficiency]MGA - [3-methylglutaconic aciduria]MGA1- [3-methylglutaconic aciduria type 1]MGA2 - [3-methylglutaconic aciduria type 2]MGA3 - [3-methylglutaconic aciduria type 3]MGA4 - [3-methylglutaconic aciduria type 4]Methacrylic aciduriaMethylmalonate semialdehyde dehydrogenase deficiencyMethylmalonic acidaemiaMethylmalonic acidaemia - homocystinuriaMethylmalonic acidaemia - homocystinuria type cbl CMethylmalonic acidaemia - homocystinuria type cbl DMethylmalonic acidaemia - homocystinuria type cbl FMethylmalonic aciduriaMethylmalonic aciduria - homocystinuriaMethylmalonic aciduria - homocystinuria type cbl CMethylmalonic aciduria - homocystinuria type cbl DMethylmalonic aciduria - homocystinuria type cbl FMethylmalonic aciduria, vitamin B12 responsiveMethylmalonic aciduria, vitamin B12 unresponsiveMethylmalonyl-CoA epimerase deficiencyMethylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiencyMethylmalonyl-CoA racemase deficiencyMethylmalonyl-CoA racemase deficiency with sepiapterin reductase deficiencyMultiple carboxylase deficiencyMultiple carboxylase deficiency due to biotinidase deficiencyMultiple carboxylase deficiency due to holocarboxylase synthetase deficiencyMutase methylmalonic acidaemiaMutase methylmalonic aciduriaMutase0 methylmalonic acidaemiaMutase0 methylmalonic aciduriaNeurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyOptic atrophy plus syndromePartial deficiency of methylmalonyl-CoA mutasePropionic acidaemiaPropionic aciduriaPropionyl-CoA carboxylase deficiencySBCAD - [Short/branched-chain acyl-coA dehydrogenase] deficiencyShort/branched-chain acyl-coA dehydrogenase deficiencyTafazzin gene defectVitamin B12 responsive methylmalonic aciduria type cbl AVitamin B12 responsive methylmalonic aciduria type cbl BVitamin B12 responsive methylmalonic aciduria type cbl mut-methylcrotonyl-CoA carboxylase deficiency