Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs
Open Access
- 28 March 2017
- journal article
- review article
- Published by MDPI AG in International Journal of Neonatal Screening
- Vol. 3 (2), 6
- https://doi.org/10.3390/ijns3020006
Abstract
Newborn screening for lysosomal storage diseases (LSDs) is increasingly being considered as an option. The development of analytical screening methods, of second-tier methods, and of therapeutic possibilities, are paving the way for routine screening for LSDs in the coming years. Here, we give a brief description of the current status quo, what screening methods are currently available or are in the pipeline, what is the current status of therapeutic possibilities for LSDs, what LSDs are the most obvious candidates for introduction in screening programs, and what LSDs are already part of regional or national pilot or routine screening programs worldwide.Keywords
This publication has 53 references indexed in Scilit:
- Development of a bile acid–based newborn screen for Niemann-Pick disease type CScience Translational Medicine, 2016
- Improved Reagents for Newborn Screening of Mucopolysaccharidosis Types I, II, and VI by Tandem Mass SpectrometryAnalytical Chemistry, 2014
- A pilot newborn screening program for Mucopolysaccharidosis type I in TaiwanOrphanet Journal of Rare Diseases, 2013
- Lysosomal storage diseases—the horizon expandsNature Reviews Neurology, 2013
- Algorithm for Pompe disease newborn screening: Results from the Taiwan screening programMolecular Genetics and Metabolism, 2012
- Enzyme replacement therapy for lysosomal storage diseasesCurrent Opinion in Pediatrics, 2011
- Diagnosis of Metachromatic Leukodystrophy by Immune Quantification of Arylsulphatase A Protein and Activity in Dried Blood SpotsClinical Chemistry, 2008
- Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: Correlations with disease severity and response to therapeutic interventionBiochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2008
- Tandem Mass Spectrometric Analysis of Dried Blood Spots for Screening of Mucopolysaccharidosis I in NewbornsClinical Chemistry, 2005
- Fabry disease: enzymatic diagnosis in dried blood spots on filter paperClinica Chimica Acta; International Journal of Clinical Chemistry, 2001