Definitions for "Inborn error of metabolism"
An inherited biochemical variation due to genetic alterations in the genes encoding metabolic enzymes.
A rare enzyme deficiency; children with inborn errors of metabolism do not have certain enzymes that the body requires to maintain organ functions. Inborn errors of metabolism can cause brain damage and mental retardation if left untreated. Phenylketonuria is an 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