inborn error of metabolism

Explore definitions, synonyms, and language insights of inborn error of metabolism

Definitions

Noun

any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism

congenital disease genetic abnormality genetic defect genetic disease genetic disorder hereditary condition hereditary disease inherited disease inherited disorder metabolic disorder

galactosemia lysinemia Niemann-Pick disease phenylketonuria PKU