Inborn error of metabolism (redirected from Metabolism, inborn errors)

inborn error of metabolism

n.

Any of a group of congenital disorders caused by an inherited defect in a single specific enzyme that results in a disruption or abnormality in a specific metabolic pathway.

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Inborn error of metabolism

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.

Mentioned in: Mental Retardation