inborn errors of metabolism


in·born er·rors of me·tab·o·lism

(īn'bōrn er'ŏrz mĕ-tab'ŏ-lizm) 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 forced metabolism through an auxiliary pathway (e.g., oxaluria).

inborn errors of metabolism

Genetic defects that interfere with the normal biochemical processes of the body. The term was coined in 1908 Sir Archibald Garrod (1857–1936) to describe the inherited diseases ALKAPTONURIA, ALBINISM, CYSTINURIA, and PENTOSURIA. Many other such conditions are now known and their genetic mechanism understood. All metabolic processes are mediated by enzymes and these are coded for by genes. When a gene mutation results in the absence or defect of one or more of these enzymes, inborn errors of metabolism result.