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Results 1 - 6 of 6 for Maple syrup urine disease
  1. Maple syrup urine disease 
    ... lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death.Maple ...
    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 
    ... delay, and the other health problems associated with maple syrup urine disease. More About This Health Condition 2-oxoisovalerate dehydrogenase ... branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) ODBB_HUMAN Tests of BCKDHB PubMed BRANCHED-CHAIN ...
    https://medlineplus.gov/genetics/gene/bckdhb - Genetics
  4. BCKDHA gene 
    ... complex. In the Old Order Mennonite population, where maple syrup urine disease occurs frequently, the most common mutation replaces the ... delay, and the other health problems associated with maple syrup urine disease. More About This Health Condition BCKDE1A BCKDH E1- ...
    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