Gaucher's disease


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 dysfunction.

Dictionary of molecular biology. 2004.

Look at other dictionaries:

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

  • 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,… …   Medical dictionary

  • 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 — 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

  • Болезнь Гоше (Gaucher'S Disease) — генетическое (аутосомнорецессивное) заболевание, возникающее в результате отложений глюкоцереброзидов (см. Цереброзид) в головном мозге и других тканях (особенно в костях). Это приводит к задержке умственного развития человека, нарушению… …   Медицинские термины


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