Lysosomal Storage Disorders Classification

ˌ l aɪ s ə ˈ s oʊ m əl are a group of about 50 rare inherited metabolic disorders that result from defects in lysosomal function.

Lysosomal storage disorders classification.

Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. Lysosomal storage disorders are a group of more than 50 rare diseases. Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build up of various toxic materials in the body s cells as a result of enzyme deficiencies. Learn more about gaucher disease.

This disorder often causes severe burning pains in hands and feet and in some cases a distinctive skin rash on the legs. More than 50 lysosomal storage diseases have been described some of which are discussed in this article. Lysosomal storage diseases comprise a group of over 70 inherited metabolic disorders caused by deficiency of certain enzymes in certain compartments of the cells that generally involve progressive neurological manifestations and that primarily affect children 1 lysosomal storage diseases are individually rare but collectively affect 1 in 5 000 live births. Gaucher disease often causes spleen and liver enlargement blood problems and bone issues.

If one of these enzymes is. Age of onset and clinical manifestations may vary widely among patients with a given lysosomal storage disease and significant phenotypic heterogeneity between family members carrying identical mutations has been reported. They affect the lysosome a structure in your cells that breaks down substances such as proteins carbohydrates and old. Some of the most common lysosomal storage disorders include.