Inborn errors of metabolism
Inborn errors of metabolism
Definition
An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.
Also known as congenital metabolic disorder, congenital metabolism disorder, hereditary metabolic disease, inborn disorders of metabolism, inborn error of metabolism, inborn errors of metabolism, inborn metabolic disorder, inherited disorder of metabolism, inherited disorders of metabolism, inherited metabolic disorder — per MONDO