Inborn errors of metabolism – Classification (2025) V Reid Sutton, MD

Description

A comprehensive discussion and classification of congenital metabolic disorders (Inborn Errors of Metabolism – IEM), which result from the absence or abnormality of enzymes or cofactors. It groups the disorders according to the general type of metabolism involved, such as lysosomal storage disorders, organic acidemias, and fatty acid oxidation disorders, and distinguishes between disorders of acute intoxication and those with permanent, progressive symptoms.