5C50.D0
category
Maple-syrup-urine disease
Definition
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.
Also indexed as
BCKD - [branched-chain alpha-ketoacid dehydrogenase deficiency]Branched chain ketoaciduriaClassical maple-syrup-urine diseaseIntermediate branched chain ketoaciduriaIntermediate maple-syrup-urine diseaseIntermittent branched chain ketoaciduriaIntermittent maple-syrup-urine diseaseKetoacid decarboxylase deficiencyKetoaminoacidaemiaMSUD - [Maple-syrup-urine disease]Maple-syrup-urine diseaseOxoacid decarboxylase deficiencyPartial branched-chain ketoacid dehydrogenase deficiencySevere branched chain ketoacid dehydrogenase deficiencySevere branched chain ketoaciduriaThiamine-responsive maple-syrup-urine diseasebranched chain ketoacid dehydrogenase deficiencybranched-chain alpha-keto acid dehydrogenase deficiencyketoacidaemiamaple-syrup-urine disordermaple-syrup-urine syndrome