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Genetic Disorders 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 genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. There are a number of possible causes for genetic defects: * They may be caused by random mutation. * There are genetic disorders caused by the accidental duplication of a chromosome, as in Down syndrome and Klinefelter's syndrome, or repeated duplication of part of a chromosome as in Fragile X syndrome. ...

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 Disorders as related to Genetic Brain Disorders


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November 24, 2009


Page Updated: January 17, 2009
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