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5C50.D0 Maple-syrup-urine disease

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

synonyms

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

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