Gaucher's Disease

Herausgegeben:Miller, Frederic P.; Vandome, Agnes F.; McBrewster, John

• Broschiertes Buch

Produktbeschreibung

Gaucher's disease is a genetic disease in which a fatty substance lipid accumulates in cells and certain organs. Gaucher's disease is the most common of the lysosomal storage diseases. 536 It is caused by a hereditary deficiency of the enzyme glucocerebrosidase also known as acid -glucosidase. The enzyme acts on a fatty substance glucocerebroside also known as glucosylceramide. When the enzyme is defective, the substance accumulates, particularly in cells of the mononuclear cell lineage. Fatty material can collect in the spleen, liver, kidneys, lungs, brain and bone marrow. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and occasionally adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the white of the eye sclera. Persons affected most seriously may also be more susceptible toinfection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy.

Produktdetails

• Verlag: Alphascript Publishing
• Seitenzahl: 172
• Englisch
• ISBN-13: 9786130271206
• ISBN-10: 6130271204
• Artikelnr.: 28168049