Noun: 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
"The newborn screening test detected an inborn error of metabolism"
Derived forms: inborn errors of metabolism
Type of: genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder, metabolic disorder
Encyclopedia: Inborn error of metabolism