Prevalence of Lysosomal Storage Disorders
Open Access
- 20 January 1999
- journal article
- research article
- Published by American Medical Association (AMA) in JAMA
- Vol. 281 (3) , 249-254
- https://doi.org/10.1001/jama.281.3.249
Abstract
Lysosomal storage disorders (LSDs) represent a group of at least 41 distinct genetic diseases, each one resulting from a deficiency of a particular lysosomal protein or, in a few cases, from nonlysosomal proteins, that are involved in lysosomal biogenesis. Most LSDs are inherited in an autosomal recessive manner, with the exception of Fabry disease and mucopolysaccharidosis (MPS) type II, which show X-linked recessive inheritance.Keywords
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