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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Maple Syrup Urine Disease | |
| Synonyms |
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| Definitions |
An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C34806 |
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| code |
C34806
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| Contributing_Source |
Cellosaurus NICHD
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| definition |
An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
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| label |
Maple Syrup Urine Disease
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| Legacy Concept Name |
Maple_Syrup_Urine_Disease
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| Preferred_Name |
Maple Syrup Urine Disease
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| prefixIRI |
NCIT:C34806
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| prefLabel |
Maple Syrup Urine Disease
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0024776
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| subClassOf |
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