title: Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening.
abstract: The lysosomal storage disorders (LSDs) are a group of genetic disorders resulting from defective lysosomal metabolism and subsequent accumulation of substrates. Patients present with a large phenotypic spectrum of disease manifestations that are generally not specific for LSDs, leading to considerable diagnostic delay and missed cases. Introduction of new disease modifying therapies for LSDs has made early diagnosis a priority. Increased awareness, but particularly the introduction of screening programs allow for early diagnosis and timely initiation of treatment. This review will provide insight into the epidemiology and diagnostic process for LSDs. In addition, challenges for carrier screening, high-risk screening and newborn population screening for LSDs are discussed.
authors.affiliation: Department of Pediatrics and Amsterdam Lysosome Center 'Sphinx', Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address: s.d.kingma@amc.uva.nl.
authors.forename: Sandra D K
authors.initials: SD
authors.lastname: Kingma
authors.affiliation: Division of Clinical and Translational Genetics, Department of Human Genetics, University of Miami, Miller School of Medicine, 1501 NW 10th Avenue, Miami, FL 33136, USA. Electronic address: obodamer@med.miami.edu.
authors.forename: Olaf A
authors.initials: OA
authors.lastname: Bodamer
authors.affiliation: Department of Pediatrics and Amsterdam Lysosome Center 'Sphinx', Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address: f.a.wijburg@amc.uva.nl.
authors.forename: Frits A
authors.initials: FA
authors.lastname: Wijburg
mesh_terms: D042241:Early Diagnosis; D061345:Early Medical Intervention; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000453:epidemiology; D015997:Neonatal Screening / Q000379:methods*; D018570:Risk Assessment
keywords: carrier screening; diagnosis; epidemiology; high-risk screening; lysosomal storage disorders; newborn screening