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Screening for lysosomal storage disorders—A clinical perspective
Author(s) -
Fletcher Janice M.
Publication year - 2006
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-006-0246-7
Subject(s) - lysosomal storage disorders , newborn screening , intensive care medicine , medicine , documentation , perspective (graphical) , multiplex , lysosomal storage disease , disease , bioinformatics , pediatrics , computer science , pathology , biology , artificial intelligence , programming language
Summary The availability of therapies for lysosomal storage diseases (LSDs) and clear documentation from animal studies that optimal therapy depends on early diagnosis have set the scene for newborn screening for LSDs. The combined incidence of this group of conditions is approximately 1 in 7000, well within the feasible range for newborn screening programmes. The availability of multiplex technology has facilitated the technical aspects of initial screening. The scientific challenge is to predict disease severity early enough to influence choice of therapy. LSD screening is discussed from the point of view of the scientists, the families affected by these conditions, the community and clinicians.