Gaucher disease (GD) is one of the most common lysosomal storage disorders resulting from biallelic mutations in the <em>GBA1 </em>gene, causing a dysfunction of the lysosomal hydrolase, glucocerebrosidase (acid-β-glucosidase; E.C 3.2.1.45). Clinical manifestations are heterogenous and can include splenomegaly, anemia, and neurological impairments in the case of neuronopathic Gaucher disease types 2 and 3. Newborn screening, arguably the most important public health initiative to date, has been regularly conducted on newborns in the United States since the 1960s. The development of new low-cost screening methods and effective treatments are motivating the inclusion of GD and other lysosomal storage disorders in population-wide newborn screens. In this article, we review the history of newborn screening for GD, the screening methods used, and ethical considerations and challenges regarding the successful implementation of population-based newborn screening for GD.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.