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Preferred term

inborn errors of metabolism  

Definition

  • Inborn errors of metabolism (IEMs) are singlegene disorders that block a normal metabolic process and produce a nonmetabolized substance that often has serious, in some cases fatal, consequences. Each of the over 300 known IEMs is of low prevalence in the population at large, ranging from 1/10,000 to perhaps 1/350,000 births, but in combination affect about 1 in every 2,500 to 5,000 births. [Source: Encyclopedia of Human Development; Inborn Errors of Metabolism]

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https://concepts.sagepub.com/social-science/concept/inborn_errors_of_metabolism

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