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Journal of Inherited Metabolic Disease

Erschienen in:

06.06.2018 | Letter to the editors

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

verfasst von: Jean-Marie Saudubray, Fanny Mochel

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 5/2018

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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.

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Titel: The phenotype of adult versus pediatric patients with inborn errors of metabolism
verfasst von: Jean-Marie Saudubray
Fanny Mochel
Publikationsdatum: 06.06.2018
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 5/2018
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-018-0209-9

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