loading...| Preferred Name |
maple syrup urine disease |
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| Synonyms |
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| Definitions |
An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_9269 |
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| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
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| definition |
An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. |
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| hasDbXref |
OMIM:248600 MESH:D008375 OMIM:246900 NCI:C34806 SNOMEDCT_US_2016_03_01:27718001 ORDO:511 ICD10CM:E71.0 OMIM:615135 UMLS_CUI:C0024776 |
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| hasExactSynonym |
Ketoacidaemia branched chain ketoaciduria |
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| hasOBONamespace |
disease_ontology |
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| hasRelatedSynonym |
dihydrolipoamide dehydrogenase deficiency |
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| id |
DOID:9269 |
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| imported from | ||
| inSubset | ||
| label |
maple syrup urine disease |
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| prefixIRI |
DOID:9269 |
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| prefLabel |
maple syrup urine disease |
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| subClassOf |
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