5C50.D0
Maple-syrup-urine disease
Doença da urina de xarope de Bordo
CategoryDefinition
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 diseaseKetoacid decarboxylase deficiencyBranched chain ketoaciduriaOxoacid decarboxylase deficiencybranched chain ketoacid dehydrogenase deficiencyketoacidaemiaMSUD - [Maple-syrup-urine disease]Ketoaminoacidaemiabranched-chain alpha-keto acid dehydrogenase deficiencyBCKD - [branched-chain alpha-ketoacid dehydrogenase deficiency]maple-syrup-urine disordermaple-syrup-urine syndromeClassical maple-syrup-urine diseaseSevere branched chain ketoacid dehydrogenase deficiencySevere branched chain ketoaciduriaIntermediate maple-syrup-urine diseasePartial branched-chain ketoacid dehydrogenase deficiencyIntermediate branched chain ketoaciduriaIntermittent maple-syrup-urine diseaseIntermittent branched chain ketoaciduriaThiamine-responsive maple-syrup-urine disease