Lysosomal Storage Disorders Examples

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.

Lysosomal storage disorders examples.

For example gaucher and tay sachs happen more often in people of european jewish descent. This disorder often causes severe burning pains in hands and feet and in some cases a distinctive skin rash on the legs. Lysosomal storage diseases lsds. 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.

The ninds along with other institutes and centers of the national institutes of health supports the lysosomal disease network a network of centers that address some of the major challenges in the diagnosis management and therapy of rare diseases including the lipid storage diseases. Some of the most common lysosomal storage disorders include. Lysosomal storage diseases are rare but some forms are more common in certain groups of people. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling.

Mucopolysacchrides glycoprotein etc. If one of these enzymes is. Lysosomal storage disease are more than. Gaucher disease often causes spleen and liver enlargement blood problems and bone issues.

Lysosomal storage disease is a group of disorders that affect specific enzymes. There are nearly 50 of these disorders altogether and they may affect different parts of the body including the skeleton brain skin heart and central. Learn more about gaucher disease.