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Journal

Epidemiology of lysosomal storage diseases: an overview

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Published:1st Jan 2006
Author: Fuller M, Meikle PJ, Hopwood JJ.
Availability: Free full text
Ref.:Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 2
DOI:10.1093/qjmed/hcq117

Lysosomal storage diseases (LSDs) comprise a group of at least 50 distinct genetic diseases, each one resulting from a deficiency of a particular lysosomal protein/activity or, in a few cases, from non-lysosomal activities that are involved in lysosomal biogenesis or protein maturation. Fabry disease is the second most common of the LSDs, after Gaucher disease. The reported epidemiological data are likely to be underestimates, due to missed diagnoses of these rare disorders. The positive and negative outcomes of newborn screening for Fabry disease and LSDs in general are considered. Early diagnosis and intervention before the onset of irreversible pathology will provide a substantial benefit to many of these newborns, as well as providing the opportunity for parents to receive genetic counselling. However, there can also be potential harm to the parent/newborn relationship as a consequence of knowing that the baby has an incurable disorder.

 

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