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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 nervous system.
Gaucher disease is a genetic disorder in which glucocerebroside (a sphingolipid , also known as glucosylceramide) , accumulates in cells and certain organs. The disorder is characterized by bruising , fatigue, anemia , low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside. ..
Mucopolysacharidosis are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans . These long chains of sugar carbohydrates occur within the cells that help bulid bone , cartilage tendons , corneas , skin , and coonective tissue Glycosaminoglycans (formerly called mucopolysaccharides ) are also found in the fluids that lubricate joints Subjects with a mucopolysaccharidosis either do not produce enough of one of the eleven ...
Pompe disease is also called Glycogen storage disease type II, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified. The build-up of glycogen causes progressive muscle ...
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the Chairman of the Administrative Committee of the rare Storage Diseases society had a meeting with the Parliamentary Committee of health and environment
We are glad to announce we had now the official license of the association
Election of the Administrative Committee for Rare Storage Diseases society
With blessing of allah the society licenses has been issued by Ministry of Social Development after getting all Ministerial and Security approval on 8/8/2017 . The society care for those who suffers from storage diseases .