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Genetic Brain Disorders as related to Genetic Testing/Counseling


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

 

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...

A service equipped with a laboratory and directed by a qualified physician to advise parents and prospective parents concerning the potential and implications of genetic defects. The laboratory is capable is analyzing human DNA, RNA, chromosomes, proteins, and certain other genetic material in order to detect possible genetic defects.


Genetic Brain Disorders as related to Genetic Testing/Counseling


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October 13, 2008


Page Updated: June 12, 2007
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