Maple-syrup-urine disease (Q40000): Difference between revisions
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A doença da urina do xarope de ácer (ou bordo) é um distúrbio do metabolismo dos aminoácidos de cadeia ramificada. Quatro formas são descritas. A forma clássica de início precoce se manifesta após o nascimento por letargia, má alimentação e sinais neurológicos de intoxicação. O curso clínico sem tratamento é caracterizado pelo aprofundamento do coma com urina com odor de xarope de bordo . A forma subaguda se manifesta posteriormente com encefalopatia, deficiência mental, hipotonia importante, opistótono e atrofia cerebral com desfecho grave. A forma intermitente pode se manifestar em qualquer idade e se apresenta com coma cetoacidótico repetido. A forma responsiva à tiamina é uma forma muito rara caracterizada pela melhora do perfil bioquímico com a terapia com tiamina. | |||
| description / en | description / en | ||
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. | |||
Revision as of 05:38, 13 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C50.D0 |
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| English | Maple-syrup-urine disease |
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. |
