inborn error of metabolism

Noun inborn error of metabolism has 1 sense

• inborn error of metabolism(n = noun.state) - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism;
is a kind of metabolic disorder, congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder
has particulars: galactosemia, lysinemia, niemann-pick disease, phenylketonuria, pku