5C50.E0

ICD-11 MMS 2026-01

Classical organic aciduria

Description

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 aciduria
  • Methylmalonic aciduria - homocystinuria
  • Methylmalonic acidaemia - homocystinuria
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  • 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
  • Hyperglycinaemia with ketosis and leucopaenia
  • Ketotic glycinaemia
  • Ketotic hyperglycinaemia
  • Propionic acidaemia
  • Propionyl-CoA carboxylase deficiency
  • Isovaleric aciduria
  • Isovaleric acid CoA dehydrogenase deficiency
  • Isovaleric acidaemia
  • 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-methylcrotonyl-CoA carboxylase deficiency
  • MCC - [methylcrotonyl-CoA carboxylase] deficiency
  • MCCD - [methylcrotonyl-CoA carboxylase deficiency]
  • methylcrotonyl-CoA carboxylase deficiency
  • 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
  • Cardioskeletal myopathy-neutropaenia
  • MGA2 - [3-methylglutaconic aciduria type 2]
  • Tafazzin gene defect
  • 3-methylglutaconic aciduria type 3
  • Autosomal recessive optic atrophy type 3
  • Costeff optic atrophy syndrome
  • Costeff syndrome
  • Infantile optic atrophy with chorea and spastic paraplegia
  • MGA3 - [3-methylglutaconic aciduria type 3]
  • Optic atrophy plus syndrome
  • 3-methylglutaconic aciduria type 4
  • MGA4 - [3-methylglutaconic aciduria type 4]
  • 3-methylglutaconic aciduria type 5
  • 3-methylglutaconic aciduria with normal3 -methylglutaconyl-Co A hydratase
  • DCMA - [Dilated cardiomyopathy with ataxia] syndrome
  • Dilated cardiomyopathy with ataxia
  • 2-methylbutyric aciduria
  • 2-methylbutyryl glycinuria
  • Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
  • SBCAD - [Short/branched-chain acyl-coA dehydrogenase] deficiency
  • 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

Exclusions from above levels

  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
  • 5A71.01 – Congenital adrenal hyperplasia
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  • 5A81.1 – 5-alpha-reductase deficiency
  • LD28.01 – Marfan syndrome
  • LD28.1 – Ehlers-Danlos syndrome
  • LD2A.4 – androgen resistance syndrome
  • 18 – Pregnancy, childbirth or the puerperium
  • http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

  • 5C50.E1 – Cerebral organic aciduria
  • 5C50.EY – Other specified organic aciduria
  • 5C50.EZ – Organic aciduria, unspecified

Foundation entity

Classical organic aciduria – http://id.who.int/icd/entity/1879509617

Part of: 5C50.E: Organic aciduria › 5C50: Inborn errors of amino acid or other organic acid metabolism › 05: Endocrine, nutritional or metabolic diseases