Human genes for Gaucher's disease
Gaucher's disease [DOID:1926]
Gaucher's 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 The disorder is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen. It is caused by a hereditary deficiency of the enzyme glucosylceramidase. The enzyme acts on the fatty acid glucosylceramide. When the enzyme is defective, glucosylceramide accumulates, particularly in white blood cells, most often macrophages (mononuclear leukocytes). glucosylceramidase can collect in the spleen, liver, kidneys, lungs, brain and bone marrow.
Synonyms: Gaucher's disease, DOID:1926, Gauchers disease, Gaucher's disorder, Gaucher's syndrome ...