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

AbstractUntil 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 un derlying 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 p rotein expression, which suggests the intervention of environmental, ontogenic, and aging factors.
Source: Journal of Inherited Metabolic Disease - Category: Internal Medicine Source Type: research