Lysosomal Storage Disorders List

They affect the lysosome a structure in your cells that breaks down substances such as proteins carbohydrates and old.

Lysosomal storage disorders list.

There are approximately 50 known lsds each caused by a unique gene mutation which leads to a disease specific enzyme that is deficient or malfunctioning. 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. Disorders in which intracellular material that cannot be metabolized is stored in the lysosomes are called lysosomal storage diseases. Inheritance of lysosomal storage diseases.

Among the common lysosomal storage disorders. 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. 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.

This causes an accumulation of abnormal substances that are usually degraded within lysosomes resulting in cell damage and death these substances include specific lipids and glycoproteins such as sphingolipids glycosaminoglycans and gangliosides among others. Pompe s disease is glycogen storage disease. In addition to lipid storage diseases other lysosomal storage diseases include the mucolipidoses in which excessive amounts of lipids with attached sugar molecules are stored in the cells and tissues and the. The excess substances built up in your child s cells can cause a wide range of problems throughout the body affecting organs including the.

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. Two of them are mucopolysaccharidoses hunter and hurler syndrome. Lysosomal storage disease list. All are inherited as autosomal recessive ar condition except.

Hunter syndrome x linked recessive fabry s disease x linked recessive. Although the different types of lsds are rare individually taken together they affect roughly 1 in 7 700 births making them a relatively common health problem. Lysosomal storage disorders develop as a result of an enzyme deficiency or malfunction that causes cell waste to build up within the cell instead of being excreted. Lysosomal storage diseases are rare but can lead to death if untreated.

If one of these enzymes is. Lysosomal storage disorders are a group of more than 50 rare diseases. The scientific community has identified more than 40 types of lysosomal storage diseases and that number keeps growing.