loading...| Preferred Name |
枫糖尿病 / Maple-syrup-urine disease |
| Definitions |
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 characterized by deepening coma with maple syrup odor 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 characterized by improvement of the biochemical profile with thiamine therapy. |
| ID |
http://purl.bmicc.cn/ontology/ICD11CN/5C50.D0 |
| 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 characterized by deepening coma with maple syrup odor 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 characterized by improvement of the biochemical profile with thiamine therapy. |
| hasDbXref | |
| label |
枫糖尿病 / Maple-syrup-urine disease |
| mappingRelation | |
| notation |
5C50.D0 |
| prefixIRI |
ICD11CN:C50.D0 |
| prefLabel |
枫糖尿病 / Maple-syrup-urine disease |
| subClassOf |