inborn error of metabolism

Noun

1.

inborn error of metabolism - 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, galactosemia, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder, lysinemia, metabolic disorder, Niemann-Pick disease, phenylketonuria, PKU

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