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Table of Contents > Health Dictionary > Inborn error of metabolism

Inborn error of metabolism

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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