inborn error of metabolism

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Noun inborn error of metabolism has 1 sense

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
--₁ is a kind of metabolic disorder; genetic disease, genetic disorder, genetic abnormality, genetic defect, congenital disease, inherited disease, inherited disorder, hereditary disease, hereditary condition
--₁ has particulars:
galactosemia; lysinemia; Niemann-Pick disease; phenylketonuria, PKU

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