Lysosomal Storage Disorders Examples

Lysosomal storage disease is a group of disorders that affect specific enzymes.

Lysosomal storage disorders examples.

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. Lysosomal disorder usually caused by the lysosomal disfunction usually deficiency of single enzyme required for metabolism of lipid. Lysosomal storage diseases are rare but some forms are more common in certain groups of people. 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.

This disorder often causes severe burning pains in hands and feet and in some cases a distinctive skin rash on the legs. What is lysosomal storage diseases. Mucopolysacchrides glycoprotein etc. Lysosomal storage diseases lsds.

This process requires several critical enzymes. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. For example gaucher and tay sachs happen more often in people of european jewish descent. Lysosomal storage disease are more than.

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. Gaucher disease often causes spleen and liver enlargement blood problems and bone issues. 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.