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 disorders list.

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

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. They affect the lysosome a structure in your cells that breaks down substances such as proteins carbohydrates and old. If one of these enzymes is. Lysosomal storage disorders are a group of more than 50 rare diseases.

The excess substances built up in your child s cells can cause a wide range of problems throughout the body affecting organs including the. Disorders in which intracellular material that cannot be metabolized is stored in the lysosomes are called lysosomal storage diseases. Among the common lysosomal storage disorders. Lysosomal storage diseases lsds.

Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. Inheritance of lysosomal storage diseases. Hunter syndrome x linked recessive fabry s disease x linked recessive. 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.

The scientific community has identified more than 40 types of lysosomal storage diseases and that number keeps growing. This process requires several critical enzymes. Pompe s disease is glycogen storage disease. Lysosomal storage diseases are rare but can lead to death if untreated.

Lysosomal storage disease list. Lysosomal storage diseases are a group of inherited metabolic disorders caused by a deficiency of specific enzymes. 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.