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Newborn screening for lysosomal storage disorders
Author(s) -
Nakamura Kimitoshi,
Hattori Kiyoko,
Endo Fumio
Publication year - 2011
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.30291
Subject(s) - substrate reduction therapy , enzyme replacement therapy , lysosomal storage disease , krabbe disease , lysosome , mucopolysaccharidosis , newborn screening , lysosomal storage disorders , fabry disease , disease , genetic enhancement , medicine , enzyme , gaucher's disease , glucocerebrosidase , immune system , intracellular , biology , immunology , biochemistry , pathology , gene , leukodystrophy
Abstract Lysosomes are intracellular organelles containing acid hydrolases that degrade biological macromolecules. Lysosomal storage disorders (LSDs) are caused by absent activity of one or more of these enzymes due to mutations of genes encoding lysosomal hydrolases or enzymes that process, target, and transport these enzymes. The specific signs and symptoms of each LSD derive from the type of material accumulated within the lysosome, the site (organ) of accumulation and the response of the body (sometimes in the form of an inflammatory or immune response) to the accumulated material. Interest for inclusion of these disorders in newborn screening programs derives from the availability of effective therapy in the form of enzyme replacement or substrate reduction therapy and bone marrow transplant that may improve long‐term outcome especially if started prior to irreversible organ damage. Based on the availability of therapy and suitable screening methods, Gaucher disease, Fabry disease, Pompe disease, mucopolysaccharidosis I and II, Niemann–Pick disease, and Krabbe disease are candidates for newborn screening. Pilot newborn screening projects have been performed for some of these conditions that indicate the feasibility of this approach. This review will provide insight into these screening strategies and discuss their advantages and limitations. © 2011 Wiley‐Liss, Inc.