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Birth Defects as related to Genetic Brain Disorders


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

A birth defect is an abnormality of structure, function or metabolism (body chemistry) present at birth that results in physical or mental disability, or is fatal. Several thousand different birth defects have been identified. Birth defects are the leading cause of death in the first year of life.

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...


Birth Defects as related to Genetic Brain Disorders


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July 26, 2008


Page Updated: June 12, 2007
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