Lysosomal storage disease

Lysosomal storage disease

The lysosomal storage diseases are a group of over forty human genetic disorders that result from defects in lysosomal function. [cite journal |author=Winchester B, Vellodi A, Young E |title=The molecular basis of lysosomal storage diseases and their treatment |journal=Biochem. Soc. Trans. |volume=28 |issue=2 |pages=150–4 |year=2000 |pmid=10816117] 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.

Types

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

Treatment

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. [cite journal |author=Clarke JT, Iwanochko RM |title=Enzyme replacement therapy of Fabry disease |journal=Mol. Neurobiol. |volume=32 |issue=1 |pages=43–50 |year=2005 |pmid=16077182 |doi=10.1385/MN:32:1:043] [cite journal |author=Bruni S, Loschi L, Incerti C, Gabrielli O, Coppa GV |title=Update on treatment of lysosomal storage diseases |journal=Acta Myol |volume=26 |issue=1 |pages=87–92 |year=2007 |pmid=17915580] The experimental technique of gene therapy may offer cures in the future. [cite journal |author=Ponder KP, Haskins ME |title=Gene therapy for mucopolysaccharidosis |journal=Expert Opin Biol Ther |volume=7 |issue=9 |pages=1333–45 |year=2007 |pmid=17727324 |doi=10.1517/14712598.7.9.1333]

References


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