Search Ontology:
Human Disease
maple syrup urine disease type IB
- Term ID
- DOID:0061206
- Synonyms
-
- Definition
- A maple syrup urine disease that is characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine and that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHB gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 6q14. https://pubmed.ncbi.nlm.nih.gov/7883996/
- References
- Ontology
- Human Disease ( DOID:0061206 )
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Genes Involved
Zebrafish Models