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Genetic Brain Disorders as related to Genetic Testing


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

Newborn Screening; Paternity Testing 

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...

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


Genetic Brain Disorders as related to Genetic Testing


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October 13, 2008


Page Updated: June 12, 2007
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