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Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy. Sometimes, the lysosomal storage can be caused not by the enzymatic deficiency of one of the hydrolases, but by the deficiency of an activator protein, as occurs in the AB variant of GM2 gangliosidosis. Still other times, the accumulated lysosomal material results from failed egress of a small molecule as a consequence of a deficient transporter, as in cystinosis or Salla disease. In the last couple of decades, enzyme replacement therapy has become available for a number of lysosomal storage diseases. Examples include imiglucerase, taliglucerase and velaglucerase for Gaucher disease, laronidase for Hurler disease, idursulfase for Hunter disease, elosulfase for Morquio disease, galsulfase for Maroteaux-Lamy disease, alglucosidase alfa for Pompe disease, and agalsidase alfa and beta for Fabry disease. In addition, substrate reduction therapy has been approved for certain disorders, such as eliglustat for Gaucher disease. The advent of treatment options for some of these disorders has led to newborn screening pilot studies, and ultimately to the addition of Pompe disease and Hurler disease to the Recommended Uniform Screening Panel (RUSP) in 2015 and 2016, respectively.<\/jats:p>","DOI":"10.3233\/trd-160005","type":"journal-article","created":{"date-parts":[[2016,9,30]],"date-time":"2016-09-30T08:50:33Z","timestamp":1475225433000},"page":"1-71","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":123,"title":["Lysosomal storage diseases"],"prefix":"10.1177","volume":"2","author":[{"given":"Carlos R.","family":"Ferreira","sequence":"first","affiliation":[{"name":"Division of Genetics and Metabolism, Children\u2019s National Health System, Washington, DC, USA"},{"name":"George Washington University School of Medicine & Health Sciences, Washington, DC, USA"},{"name":"Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[{"name":"Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2016,9,28]]},"reference":[{"key":"ref001","volume-title":"The Online Metabolic and Molecular Bases of Inherited Disease [Internet]","author":"Sabatini D.D.","year":"2014"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.1016\/S0962-8924(98)01314-2"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1312084110"},{"key":"ref004","unstructured":"PassargeE., Color Atlas of Genetics. 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