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Results 1 - 6 of 6 for Maple syrup urine disease
  1. Maple syrup urine disease 
    Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition ...
    https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease - 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. 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
  4. 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
  5. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... acyl-CoA dehydrogenase deficiency , also called MCAD deficiency Maple syrup urine disease Mucolipidosis type IV CLN5 disease , also called neuronal ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  6. Dihydrolipoamide dehydrogenase deficiency 
    ... due to lipoamide dehydrogenase deficiency Lipoamide dehydrogenase deficiency Maple syrup urine disease, type III Genetic Testing Registry: Pyruvate dehydrogenase E3 ...
    https://medlineplus.gov/...dihydrolipoamide-dehydrogenase-deficiency - Genetics