5C50.B

ICD-11 MMS 2026-01

Disorders of methionine cycle or sulphur amino acid metabolism

Index terms

  • Disorders of methionine cycle or sulphur amino acid metabolism
  • Disorders of sulphur-bearing amino-acid metabolism
  • disorder of sulphur-bearing amino acid including those due to folate and b12 disturbance
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  • disorder of sulphur-bearing amino acid metabolism
  • disorder of transsulfuration
  • disorder of transsulphuration
  • disturbances of sulphur-bearing amino-acid metabolism
  • sulphuraminoacidaemia
  • Brain demyelination due to methionine adenosyltransferase deficiency
  • Isolated persistent hypermethioninaemia
  • MAT I/III - [Methionine adenosyltransferase I/III] deficiency
  • Methionine adenosyltransferase I/III deficiency
  • Glycine N-methyltransferase deficiency
  • GNMT - [Glycine N-methyltransferase] deficiency
  • Psychomotor retardation and myopathy due to S-adenosylhomocysteine hydrolase deficiency
  • Hypermethioninaemia due to S-adenosylhomocysteine hydrolase deficiency
  • Cystathioninuria
  • CTH - [cystathioninuria]
  • Cystathione gamma-lyase deficiency
  • Gamma-cystathionase deficiency
  • cystathionine metabolic disorder
  • Classical homocystinuria
  • CBS - [Cystathionine beta-synthase] deficiency
  • Cystathionine beta-synthase deficiency
  • Homocystinuria due to cystathionine beta-synthase deficiency
  • cystathionine synthase deficiency
  • homocystine metabolic disorder
  • Homocystinuria without methylmalonic aciduria
  • 5-methyltetrahydrofolate-homocysteine s-methyltransferase deficiency
  • Methionine synthase deficiency
  • Methylcobalamin deficiency
  • N5-methylhomocysteine transferase deficiency
  • Methylcobalamin deficiency type cbl E
  • Homocystinuria - megaloblastic anaemia due to defect in cobalamin metabolism, cbI E complementation type
  • Homocystinuria due to defect in methylation type cbl E
  • Methylcobalamin deficiency type cbl G
  • Homocystinuria - megaloblastic anaemia due to defect in cobalamin metabolism, cbI G complementation type
  • Homocystinuria due to methionine synthase deficiency type Cbl G
  • Methylcobalamin deficiency type cbl Dv1
  • Encephalopathy due to sulfite oxidase deficiency
  • Isolated sulfite oxidase deficiency
  • ISOD - [Isolated sulfite oxidase deficiency]
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency
  • Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
  • Molybdenum cofactor deficiency, complementation group A
  • Molybdenum cofactor deficiency due to defects in MOCS1 gene
  • Molybdenum cofactor deficiency, complementation group B
  • Molybdenum cofactor deficiency due to defects in MOCS2 gene
  • Molybdenum cofactor deficiency, complementation group C
  • Hypermethioninaemia due to adenosine kinase deficiency
  • Other genetic defects of methionine cycle or sulfur amino acid metabolism
  • Secondary non-genetic disorders of methionine cycle or sulfur amino acid metabolism
  • Beery-baby syndrome
  • Cystathioninemia
  • Deficiency of cystathionase
  • Deficiency of cysteine desulfhydrase
  • deficiency of cysteine desulphydrase
  • deficiency of cystine desulfhydrase
  • deficiency of cystine desulphydrase
  • Deficiency of homoserine deaminase
  • Deficiency of methionine adenosyltransferase
  • Familial methionine malabsorption
  • Hepatic methionine adenosyltransferase deficiency
  • Homocystinaemia
  • Hypermethioninaemia
  • methionine metabolic disorder
  • Methionine malabsorption syndrome
  • Smith-Strang disease
  • oast-house disease
  • oast-house urine disease
  • oasthouse disease
  • oasthouse urine disease
  • Sulfite oxidase deficiency
  • sulfite oxidase deficiency syndrome
  • sulfocysteinuria
  • sulphite oxidase deficiency
  • sulphocysteinuria

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

  • 5C50.0 – Phenylketonuria
  • 5C50.1 – Disorders of tyrosine metabolism
  • 5C50.2 – Disorders of histidine metabolism
  • 5C50.3 – Disorders of tryptophan metabolism
  • 5C50.4 – Disorders of lysine or hydroxylysine metabolism
  • 5C50.5 – Disorders of the gamma-glutamyl cycle
  • 5C50.6 – Disorders of serine metabolism
  • 5C50.7 – Disorders of glycine metabolism
  • 5C50.8 – Disorders of proline or hydroxyproline metabolism
  • 5C50.9 – Disorders of ornithine metabolism
  • 5C50.A – Disorders of urea cycle metabolism
  • 5C50.C – Disorders of beta or omega amino acid metabolism
  • 5C50.D – Disorders of branched-chain amino acid metabolism
  • 5C50.E – Organic aciduria
  • 5C50.F – Disorders of peptide metabolism
  • 5C50.G – Trimethylaminuria
  • 5C50.Y – Other specified inborn errors of amino acid or other organic acid metabolism
  • 5C50.Z – Inborn errors of amino acid or other organic acid metabolism, unspecified

Foundation entity

Disorders of methionine cycle or sulphur amino acid metabolism – http://id.who.int/icd/entity/67872354

Allowed postcoordination axes

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