5C50.E0
Classical organic aciduria
Acidúria orgânica clássica
CategoryDefinition
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.
Index Terms
Classical organic aciduriaMethylmalonic aciduria - homocystinuriaMethylmalonic acidaemia - homocystinuriaMethylmalonic aciduria - homocystinuria type cbl CMethylmalonic acidaemia - homocystinuria type cbl CMethylmalonic aciduria - homocystinuria type cbl DMethylmalonic acidaemia - homocystinuria type cbl DMethylmalonic aciduria - homocystinuria type cbl FMethylmalonic acidaemia - homocystinuria type cbl FMethylmalonic aciduriaMethylmalonic acidaemiaMethylmalonic aciduria, vitamin B12 unresponsiveComplete deficiency of methylmalonyl-CoA mutaseMutase0 methylmalonic acidaemiaMutase0 methylmalonic aciduriaPartial deficiency of methylmalonyl-CoA mutaseMutase methylmalonic acidaemiaMutase methylmalonic aciduriaMethylmalonyl-CoA epimerase deficiencyMethylmalonyl-CoA racemase deficiencyMethylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiencyMethylmalonyl-CoA racemase deficiency with sepiapterin reductase deficiencyMethylmalonic aciduria, vitamin B12 responsiveAdenosylcobalamin deficiencyVitamin B12 responsive methylmalonic aciduria type cbl AVitamin B12 responsive methylmalonic aciduria type cbl BVitamin B12 responsive methylmalonic aciduria type cbl mut-Propionic aciduriaPropionic acidaemiaPropionyl-CoA carboxylase deficiencyKetotic glycinaemiaKetotic hyperglycinaemiaHyperglycinaemia with ketosis and leucopaeniaIsovaleric aciduriaIsovaleric acidaemiaIsovaleric acid CoA dehydrogenase deficiencyMultiple carboxylase deficiencyMultiple carboxylase deficiency due to biotinidase deficiencyMultiple carboxylase deficiency due to holocarboxylase synthetase deficiencyNeurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyBeta-hydroxyisobutyryl-CoA deacylase deficiencyMethacrylic aciduria3-hydroxyisobutyric aciduria3-hydroxyisobutyrate dehydrogenase deficiency3-hydroxy-3-methylglutaric aciduria3-methylcrotonylglycinuria3-methylglutaconic aciduriaMGA - [3-methylglutaconic aciduria]3-methylglutaconic aciduria type 13-methylglutaconyl-CoA hydratase deficiency3MG-CoA hydratase deficiencyMGA1- [3-methylglutaconic aciduria type 1]Barth syndrome3-methylglutaconic aciduria type 2Tafazzin gene defectMGA2 - [3-methylglutaconic aciduria type 2]Cardioskeletal myopathy-neutropaenia3-methylglutaconic aciduria type 3Infantile optic atrophy with chorea and spastic paraplegiaAutosomal recessive optic atrophy type 3Costeff optic atrophy syndromeOptic atrophy plus syndromeCosteff syndromeMGA3 - [3-methylglutaconic aciduria type 3]3-methylglutaconic aciduria type 4MGA4 - [3-methylglutaconic aciduria type 4]3-methylglutaconic aciduria type 5Dilated cardiomyopathy with ataxiaDCMA - [Dilated cardiomyopathy with ataxia] syndrome3-methylglutaconic aciduria with normal3 -methylglutaconyl-Co A hydratase2-methylbutyric aciduriaShort/branched-chain acyl-coA dehydrogenase deficiency2-methylbutyryl glycinuriaDevelopmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiencySBCAD - [Short/branched-chain acyl-coA dehydrogenase] deficiencyIsobutyric aciduriaIsobutyric acidaemiaIsobutyryl-CoA dehydrogenase deficiencyMethylmalonate semialdehyde dehydrogenase deficiencyGlutaric aciduria type 3Glutaric acidaemia type 3Glutaryl-CoA oxidase deficiency