children s health issues
Overview of Lysosomal Storage Disorders
Introduction
Lysosomal storage disorders are Overview of Hereditary Metabolic Disorders . Hereditary disorders occur when parents pass the defective Lysosomes are tiny components within cells. Lysosomes contain enzymes that break down (metabolize) many types of molecules entering a cell. When the enzymes do not work correctly, the molecules build up, causing damage in many areas in the body. Types of lysosomal storage disordersinclude Mucopolysaccharidoses None Sphingolipidoses Lipidoses Mucopolysaccharidosesoccur when the body lacks enzymes needed to break down and store complex sugar molecules (glycosaminoglycans). Sphingolipidosesoccur when people do not have the enzymes needed to break down sphingolipids, which are compounds that protect the cell surface and serve certain functions in the cells. There are many types of sphingolipidoses. The most common sphingolipidosis is Gaucher Disease None Others sphingolipidoses include Fabry Disease None Krabbe Disease None Metachromatic Leukodystrophy None Niemann-Pick Disease (types A and B) Tay-Sachs Disease and Sandhoff Disease None Tay-Sachs Disease and Sandhoff Disease None occur when the body lacks one of the enzymes that help the body break down and process Fats (lipids). This can lead to the buildup of specific fatty substances that normally would have been broken down by the enzymes. Over time, accumulations of these substances can be harmful to many organs of the body. Lipidoses include Cholesteryl Ester Storage Disease and Wolman Disease None Cholesteryl Ester Storage Disease and Wolman Disease None Before birth, doctors diagnose some lysosomal storage disorders by doing the prenatal screening tests Amniocentesis or Treatment of lysosomal storage disorders varies depending on the substances that accumulate in the blood and tissues. 