Inborn errors of metabolism Classification – An analysis of the classification systems for congenital metabolic disorders (2024) V Reid Sutton, MD

Description

This text discusses the classification of inborn errors of metabolism (IEMs), which are congenital metabolic disorders caused by the absence or abnormality of an enzyme or its cofactor. It describes the traditional classification system grouping disorders according to the type of metabolism involved (e.g., amino acid disorders, urea cycle disorders, lysosomal storage disorders) and categorizing them into broad groups such as disorders of acute intoxication.