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.
Lysosomal storage disorders classification.
This disorder often causes severe burning pains in hands and feet and in some cases a distinctive skin rash on the legs.
More than 50 lysosomal storage diseases have been described some of which are discussed in this article.
Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling.
Some of the most common lysosomal storage disorders include.
Learn more about gaucher disease.
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.
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.
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.
Age of onset and clinical manifestations may vary widely among patients with a given lysosomal storage disease and significant phenotypic heterogeneity between family members carrying identical mutations has been reported.
Lysosomal storage disorders are a group of more than 50 rare diseases.
Gaucher disease often causes spleen and liver enlargement blood problems and bone issues.