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August 28, 2024
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| Preferred Name | maple syrup urine disease | |
| Synonyms |
branched chain ketoaciduria inborn branched chain aminoaciduria |
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| 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. |
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| ID |
http://purl.bioontology.org/ontology/CSP/1849-1063 |
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| altLabel |
branched chain ketoaciduria inborn branched chain aminoaciduria
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|
| cui |
C0024776 C0342712
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|
| 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.
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| DID |
1849-1063
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| Inverse of RB | ||
| Inverse of RO | ||
| notation |
1849-1063
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| prefLabel |
maple syrup urine disease
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|
| tui |
T047
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| subClassOf |
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