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A proposed nosology of inborn errors of metabolism


Ferreira, Carlos R; van Karnebeek, Clara D M; Vockley, Jerry; Blau, Nenad (2019). A proposed nosology of inborn errors of metabolism. Genetics in Medicine, 21(1):102-106.

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 collaboration in the area. With the rapid advances in the field of genetics in recent years, it is likely that this nosology will need to be updated in the near future, a process that will benefit from broader input and collaboration of experts in the field to improve future versions of the proposed classification.

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 collaboration in the area. With the rapid advances in the field of genetics in recent years, it is likely that this nosology will need to be updated in the near future, a process that will benefit from broader input and collaboration of experts in the field to improve future versions of the proposed classification.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Uncontrolled Keywords:Genetics(clinical)
Language:English
Date:1 January 2019
Deposited On:31 Jan 2019 12:24
Last Modified:31 Jan 2019 12:29
Publisher:Nature Publishing Group
ISSN:1098-3600
OA Status:Green
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1038/s41436-018-0022-8
PubMed ID:29884839

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