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Definition of Enzyme defect

Enzyme defect: A disorder resulting from a deficiency (or functional abnormality) of an enzyme. For example, newborns are routinely screened for certain enzyme defects, such as phenylketonuria (PKU) and galactosemia.

Source: MedTerms™ Medical Dictionary
http://www.medterms.com/script/main/art.asp?articlekey=3267
Last Editorial Review: 3/19/2012

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