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Metabolic Disorders as related to Genetic Brain Disorders


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Progeria 

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

Progeria is an extremely rare genetic condition which causes physical changes that resemble greatly accelerated aging in sufferers. It is an autosomal recessive condition that affects around 1 in 4-8 million newborns. Currently, there are approximately 35 known cases in the world with no known cure. Most children with the disease die around 13 years of age.

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...


Metabolic Disorders as related to Genetic Brain Disorders


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May 22, 2013


Page Updated: January 17, 2010
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