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Lysosomal storage disease
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.
Additional recommended knowledge
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)
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.
|This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Lysosomal_storage_disease". A list of authors is available in Wikipedia.|