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Genetic Testing as related to Genetic Brain Disorders


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Newborn Screening; Paternity Testing 

BCKD deficiency; Brain Disorders, Inborn Genetic; Branched-chain alpha-keto acid dehydrogenase deficiency; Branched-Chai... 

Analyzing DNA to look for a genetic alteration that may indicate an increased risk for developing a specific disease or disorder.

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain amino acids (the building blocks of proteins) properly. From early infancy, the condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and mental retardation. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. Maple syrup urine disease can be life-threatening if left untreated. Maple syrup ur...


Genetic Testing as related to Genetic Brain Disorders


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October 12, 2008


Page Updated: June 12, 2007
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