Gaucher's disease

Gaucher's disease
Gau·cher's disease .gō-'shāz- n a rare hereditary disorder of lipid metabolism that is caused by an enzyme deficiency of glucocerebrosidase, that is characterized by enormous enlargement of the spleen, pigmentation of the skin, and bone lesions, and that is marked by the presence of large amounts of glucocerebroside in the cells of the reticuloendothelial system compare NIEMANN-PICK DISEASE, TAY-SACHS DISEASE
Gau·cher gō-shā Philippe Charles Ernest (1854-1918)
French physician. Gaucher specialized in skin diseases and syphilology. He described the disease now known as Gaucher's disease in 1882.

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a genetically determined (autosomal recessive) disease resulting from the deposition of glucocerebrosides (see cerebroside) in the brain and other tissues (especially bone). It causes mental retardation, abnormal limb posture and spasticity, and difficulty with swallowing. Carrier detection and prenatal diagnosis are possible; enzyme replacement therapy may be used in treatment.
P. C. E. Gaucher (1854-1918), French physician

Medical dictionary. 2011.

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Look at other dictionaries:

  • Gaucher's disease — Classification and external resources Acid beta glucosidase ICD 10 E75 …   Wikipedia

  • Gaucher cells disease — Gau·cher cells, disease (go shaґ) [Phillippe Charles Ernest Gaucher, French physician, 1854–1918] see under cell and disease …   Medical dictionary

  • Gaucher's disease — a genetically determined (autosomal recessive) disease resulting from the deposition of glucocerebrosides (see cerebroside) in the brain and other tissues (especially bone). It causes mental retardation, abnormal limb posture and spasticity, and… …   The new mediacal dictionary

  • Gaucher's disease — noun Etymology: Philippe C. E. Gaucher died 1918 French physician Date: 1902 a rare hereditary disorder of lipid metabolism caused by an enzyme deficiency and characterized by enlargement of the spleen and liver, bone lesions, and neurological… …   New Collegiate Dictionary

  • Gaucher's disease — /goh shayz /, Pathol. a rare inherited disorder of fat metabolism that causes spleen and liver enlargement, abnormal fragility and pain of the bones, and progressive neurologic disturbances, leading to early death. [after Philippe C. Ernest… …   Universalium

  • Gaucher's disease — Familial autosomal recessive defect of glucocerebrosidase ( b glucosidase), most common in Ashkenazi Jews. Associated with hepatosplenomegaly (enlargement of liver and spleen) and, in severe early onset forms of the disease, with neurological… …   Dictionary of molecular biology

  • Gaucher's disease — noun A genetic disease in which lipid accumulates in cells and certain organs …   Wiktionary

  • Gaucher's disease — genetic disease that causes an accumulation of fats in storage cells as a result of a lack of enzyme activity in breaking down molecules composed of sugar and fats …   English contemporary dictionary

  • Gaucher's disease — noun a rare chronic disorder of lipid metabolism of genetic origin • Hypernyms: ↑lipidosis, ↑monogenic disorder, ↑monogenic disease …   Useful english dictionary

  • Gaucher disease — ▪ disease       rare inherited metabolic disorder characterized by anemia, mental and neurologic impairment, yellowish pigmentation of the skin, enlargement of the spleen, and bone deterioration resulting in pathological fractures. Gaucher… …   Universalium

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