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Inborn Errors of metabolism
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6
Medical
Graduate
08/27/2011
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Term
Accumulation of Carbohydrates results in?
 Definition
Galactosemia and Glycogen Storage Disorders
Term
Accumulation of glycosaminoglycans results in?
 Definition
Mucopolysaccharidoses (Hurler Syndrome)
Term
Accumulation of glycolipids results in?
 Definition
Tay-Sachs disease
Term
Accumulation of amino acids results in?
 Definition
Phenylketonuria (PKU)
Term
Accumulation of ammonia results in?
 Definition
arginase deficiency
Term
Accumulation of organic acids results in?
 Definition
Pyruvate dehydrogenase deficiency
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