5C50.D0

ICD-11 MMS 2026-01

Maple-syrup-urine disease

Description

Maple syrup urine disease (MSUD) is a disorder of branched-chain amino acids metabolism. Four forms are described. The early onset classic form manifests after birth by lethargy, poor feeding and neurological signs of intoxication. Clinical course without treatment is characterised by deepening coma with maple syrup odour of urine. Subacute MSUD manifests later with encephalopathy, mental disability, major hypotonia, opisthotonus and cerebral atrophy with severe outcome. The intermittent form of MSUD may manifest at any age and presents with repeated ketoacidotic coma. Thiamine-responsive MSUD is a very rare form characterised by improvement of the biochemical profile with thiamine therapy.

Index terms

  • Maple-syrup-urine disease
  • BCKD - [branched-chain alpha-ketoacid dehydrogenase deficiency]
  • Branched chain ketoaciduria
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  • Ketoacid decarboxylase deficiency
  • Ketoaminoacidaemia
  • MSUD - [Maple-syrup-urine disease]
  • Oxoacid decarboxylase deficiency
  • branched chain ketoacid dehydrogenase deficiency
  • branched-chain alpha-keto acid dehydrogenase deficiency
  • ketoacidaemia
  • maple-syrup-urine disorder
  • maple-syrup-urine syndrome
  • Classical maple-syrup-urine disease
  • Severe branched chain ketoacid dehydrogenase deficiency
  • Severe branched chain ketoaciduria
  • Intermediate maple-syrup-urine disease
  • Intermediate branched chain ketoaciduria
  • Partial branched-chain ketoacid dehydrogenase deficiency
  • Intermittent maple-syrup-urine disease
  • Intermittent branched chain ketoaciduria
  • Thiamine-responsive maple-syrup-urine disease

Exclusions from above levels

  • 5C50.E0 – 3-hydroxyisobutyric aciduria
  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
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  • 5A71.01 – Congenital adrenal hyperplasia
  • 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.DY – Other specified disorders of branched-chain amino acid metabolism
  • 5C50.DZ – Disorders of branched-chain amino acid metabolism, unspecified

Foundation entity

Maple-syrup-urine disease – http://id.who.int/icd/entity/1623706568

Part of: 5C50.D: Disorders of branched-chain amino acid metabolism › 5C50: Inborn errors of amino acid or other organic acid metabolism › 05: Endocrine, nutritional or metabolic diseases