The phenotype of adult versus pediatric patients with inborn errors of metabolism

The phenotype of adult versus pediatric patients with inborn errors of metabolism Until recently, inborn errors of metabolism (IEM) were considered a pediatric specialty, as emphasized by the term “inborn,” and the concept of adult onset IEM has only very recently reached the adult medical community. Still, an increasing number of adult onset IEM have now been recognized, as new metabolomics and molecular diagnostic techniques have become available. Here, we discuss possible mechanisms underlying phenotypic variability in adult versus children with IEM. Specifically, phenotypic severity and age of onset are expected to be modulated by differences in residual protein activity possibly driven by various genetic factors. Phenotypic variability may also occur in the context of similar protein expression, which suggests the intervention of environmental, ontogenic, and aging factors. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Inherited Metabolic Disease Springer Journals

The phenotype of adult versus pediatric patients with inborn errors of metabolism

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Publisher
Springer Journals
Copyright
Copyright © 2018 by SSIEM
Subject
Medicine & Public Health; Metabolic Diseases; Human Genetics; Pediatrics; Internal Medicine; Biochemistry, general
ISSN
0141-8955
eISSN
1573-2665
D.O.I.
10.1007/s10545-018-0209-9
Publisher site
See Article on Publisher Site

Abstract

Until recently, inborn errors of metabolism (IEM) were considered a pediatric specialty, as emphasized by the term “inborn,” and the concept of adult onset IEM has only very recently reached the adult medical community. Still, an increasing number of adult onset IEM have now been recognized, as new metabolomics and molecular diagnostic techniques have become available. Here, we discuss possible mechanisms underlying phenotypic variability in adult versus children with IEM. Specifically, phenotypic severity and age of onset are expected to be modulated by differences in residual protein activity possibly driven by various genetic factors. Phenotypic variability may also occur in the context of similar protein expression, which suggests the intervention of environmental, ontogenic, and aging factors.

Journal

Journal of Inherited Metabolic DiseaseSpringer Journals

Published: Jun 6, 2018

References

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