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inborn error of metabolism

 

Definition: a group of disorders, each of which involves a disorder of a single unique enzyme, genetic in origin and operating from birth; effects are ascribable to accumulation of the substrate on which the enzyme normally acts (phenylketonuria), to deficiency of the product of the enzyme (albinism), or to forcing metabolism through an auxiliary pathway (oxaluria).

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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