Lysosomal Storage Disorders Examples

What is lysosomal storage diseases.

Lysosomal storage disorders examples.

Lysosomal storage disease are more than. Lysosomal storage disease is a group of disorders that affect specific enzymes. If one of these enzymes is. Lysosomal disorder usually caused by the lysosomal disfunction usually deficiency of single enzyme required for metabolism of lipid.

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. Learn more about gaucher disease. 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 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. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This disorder often causes severe burning pains in hands and feet and in some cases a distinctive skin rash on the legs. 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.

For example gaucher and tay sachs happen more often in people of european jewish descent. Mucopolysacchrides glycoprotein etc. Gaucher disease often causes spleen and liver enlargement blood problems and bone issues.