Sunday 21 October 2012

Lysosomal Storage Disease

Lysosomal Storage Disease

Lysosomal storage diseases (LSDs;  /ˌlaɪsəˈsoʊməl/) are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function.[1] Lysosomal storage diseases result when the lysosome – a specific organelle in the body's cells – malfunctions. Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100,000; however, as a group the incidence is about 1:5,000 - 1:10,000. Most of these disorders are autosomal recessively inherited such as Niemann-Pick disease, type C, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II).

Lysosomal Storage Disease

Lysosomal Storage Disease

Lysosomal Storage Disease

Lysosomal Storage Disease

Lysosomal Storage Disease

Lysosomal Storage Disease

Lysosomal Storage Disease

Lysosomal Storage Disease

Lysosomal Storage Disease


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