5C50.E0 Classical organic aciduria
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
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.
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synonyms
- Classical organic aciduria
- Methylmalonic aciduria - homocystinuria
- Methylmalonic acidaemia - homocystinuria
- Methylmalonic aciduria - homocystinuria type cbl C
- Methylmalonic acidaemia - homocystinuria type cbl C
- Methylmalonic aciduria - homocystinuria type cbl D
- Methylmalonic acidaemia - homocystinuria type cbl D
- Methylmalonic aciduria - homocystinuria type cbl F
- Methylmalonic acidaemia - homocystinuria type cbl F
- Methylmalonic aciduria
- Methylmalonic acidaemia
- Methylmalonic aciduria, vitamin B12 unresponsive
- Complete deficiency of methylmalonyl-CoA mutase
- Mutase0 methylmalonic acidaemia
- Mutase0 methylmalonic aciduria
- Partial deficiency of methylmalonyl-CoA mutase
- Mutase methylmalonic acidaemia
- Mutase methylmalonic aciduria
- Methylmalonyl-CoA epimerase deficiency
- Methylmalonyl-CoA racemase deficiency
- Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency
- Methylmalonyl-CoA racemase deficiency with sepiapterin reductase deficiency
- Methylmalonic aciduria, vitamin B12 responsive
- Adenosylcobalamin deficiency
- Vitamin B12 responsive methylmalonic aciduria type cbl A
- Vitamin B12 responsive methylmalonic aciduria type cbl B
- Vitamin B12 responsive methylmalonic aciduria type cbl mut-
- Propionic aciduria
- Propionic acidaemia
- Propionyl-CoA carboxylase deficiency
- Ketotic glycinaemia
- Ketotic hyperglycinaemia
- Hyperglycinaemia with ketosis and leucopaenia
- Isovaleric aciduria
- Isovaleric acidaemia
- Isovaleric acid CoA dehydrogenase deficiency
- Multiple carboxylase deficiency
- Multiple carboxylase deficiency due to biotinidase deficiency
- Multiple carboxylase deficiency due to holocarboxylase synthetase deficiency
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Beta-hydroxyisobutyryl-CoA deacylase deficiency
- Methacrylic aciduria
- 3-hydroxyisobutyric aciduria
- 3-hydroxyisobutyrate dehydrogenase deficiency
- 3-hydroxy-3-methylglutaric aciduria
- 3-methylcrotonylglycinuria
- 3-methylglutaconic aciduria
- MGA - [3-methylglutaconic aciduria]
- 3-methylglutaconic aciduria type 1
- 3-methylglutaconyl-CoA hydratase deficiency
- 3MG-CoA hydratase deficiency
- MGA1- [3-methylglutaconic aciduria type 1]
- Barth syndrome
- 3-methylglutaconic aciduria type 2
- Tafazzin gene defect
- MGA2 - [3-methylglutaconic aciduria type 2]
- Cardioskeletal myopathy-neutropaenia
- 3-methylglutaconic aciduria type 3
- Infantile optic atrophy with chorea and spastic paraplegia
- Autosomal recessive optic atrophy type 3
- Costeff optic atrophy syndrome
- Optic atrophy plus syndrome
- Costeff syndrome
- MGA3 - [3-methylglutaconic aciduria type 3]
- 3-methylglutaconic aciduria type 4
- MGA4 - [3-methylglutaconic aciduria type 4]
- 3-methylglutaconic aciduria type 5
- Dilated cardiomyopathy with ataxia
- DCMA - [Dilated cardiomyopathy with ataxia] syndrome
- 3-methylglutaconic aciduria with normal3 -methylglutaconyl-Co A hydratase
- 2-methylbutyric aciduria
- Short/branched-chain acyl-coA dehydrogenase deficiency
- 2-methylbutyryl glycinuria
- Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
- SBCAD - [Short/branched-chain acyl-coA dehydrogenase] deficiency
- Isobutyric aciduria
- Isobutyric acidaemia
- Isobutyryl-CoA dehydrogenase deficiency
- Methylmalonate semialdehyde dehydrogenase deficiency
- Glutaric aciduria type 3
- Glutaric acidaemia type 3
- Glutaryl-CoA oxidase deficiency
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