A proposed nosology of inborn errors of metabolism

We propose a nosology for inborn errors of metabolism that builds on their recent redefinition.We established a strict definition of criteria to develop a self-consistent schema for inclusion of a disorder into the nosology.We identified 1015 well-characterized inborn errors of metabolism described in the literature. In addition, there are 111 less well-characterized conditions that may be inborn errors but do not meet strict criteria for...