loading...| Preferred Name |
maple syrup urine disease |
|
| Synonyms |
branched chain ketoaciduria inborn branched chain aminoaciduria |
|
| Definitions |
autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids; metabolites accumulate in body fluids and render a "maple syrup" odor; divided into classic, intermediate, intermittent, and thiamine responsive subtypes; classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia; the intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1849-1063 |
|
| altLabel |
branched chain ketoaciduria inborn branched chain aminoaciduria |
|
| cui |
C0024776 C0342712 |
|
| definition |
autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids; metabolites accumulate in body fluids and render a "maple syrup" odor; divided into classic, intermediate, intermittent, and thiamine responsive subtypes; classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia; the intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. |
|
| DID |
1849-1063 |
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| Inverse of RB | ||
| Inverse of RO | ||
| notation |
1849-1063 |
|
| prefLabel |
maple syrup urine disease |
|
| tui |
T047 |
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| subClassOf |