A proposed nosology of inborn errors of metabolism.

ABSTRACT:

Purpose

We propose a nosology for inborn errors of metabolism that builds on their recent redefinition.

Methods

We established a strict definition of criteria to develop a self-consistent schema for inclusion of a disorder into the nosology.

Results

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 inclusion in the current nosology.

Conclusion

We provide a master list of all currently recognized inborn errors of metabolism grouped according to their pathophysiological basis, with the hope of setting a standard against which new errors should be defined, as well as to promote awareness and foster

SUBMITTER: Ferreira CR 

PROVIDER: S-EPMC6286709 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature