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Results 1 - 3 of 3 for Intermittent maple syrup urine disease
  1. BCKDHB gene 
    ... BCKDHB gene have been identified in people with maple syrup urine disease. These mutations most often cause the severe, classic ... the disorder, which becomes apparent soon after birth. Maple syrup urine disease gets its name from the distinctive sweet odor ...
    https://medlineplus.gov/genetics/gene/bckdhb - Genetics
  2. DBT gene 
    ... DBT gene have been identified in people with maple syrup urine disease, most often in individuals with mild variants of ... delay and the other health problems associated with maple syrup urine disease. More About This Health Condition BCATE2 dihydrolipoamide branched ...
    https://medlineplus.gov/genetics/gene/dbt - Genetics
  3. BCKDHA gene 
    ... BCKDHA gene have been identified in people with maple syrup urine disease. These mutations most often cause the severe, classic ... the disorder, which becomes apparent soon after birth. Maple syrup urine disease gets its name from the distinctive sweet odor ...
    https://medlineplus.gov/genetics/gene/bckdha - Genetics