Inborn error of metabolism: An abnormal metabolic condition resulting from inherited abnormality of an enzyme or protein.
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 (e.g., phenylketonuria), to deficiency of the product of the enzyme (e.g., albinism), or to forcing metabolism through an auxiliary pathway (e.g., oxaluria).
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.
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