Lysosomal storage disease

Wikipedia, the free encyclopedia - Cite This Source

The lysosomal storage diseases are a group of over forty human genetic disorders that result from defects in lysosomal function. The diseases are relatively rare and together they have an incidence of approximately 1 in 7000-8000 live births.

Lysosomes are cytoplasmic organelles that contain enzymes (specifically, acid hydrolases) that break macromolecules down to peptides, amino acids, monosaccharides, nucleic acids and fatty acids. The diseases are due to individuals lacking one of these enzymes, which causes the accumulation of material in lysosomes.

The lysosomal storage diseases are classified by the nature of the primary stored material involved, and can be broadly broken into the following: (ICD-10 codes are provided where available)

(E75) lipid storage disorders (including Gaucher's and Niemann-Pick diseases)
(E75.0-E75.1) gangliosidosis (including Tay-Sachs disease)
(E75.2) leukodystrophies
(E76.0) mucopolysaccharidoses (including Hunter syndrome and Hurler disease)
(E77) glycoprotein storage disorders
(E77.0-E77.1) mucolipidoses

There are no cures for these diseases and treatment is mostly symptomatic, although bone marrow transplantation and enzyme replacement therapy have been tried with some success. The experimental technique of gene therapy may offer cures in the future.

References

Wikipedia, the free encyclopedia © 2001-2006 Wikipedia contributors (Disclaimer)
This article is licensed under the GNU Free Documentation License.
Last updated on Thursday December 06, 2007 at 17:37:45 PST (GMT -0800)
View this article at Wikipedia.org - Edit this article at Wikipedia.org - Donate to the Wikimedia Foundation