Gaucher's disease

American  

[goh-sheyz] / goʊˈʃeɪz /

noun

Pathology.

1. 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.

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Etymology

Origin of Gaucher's disease

After Philippe C. Ernest Gaucher (1854–1918), French physician, who described it

Example Sentences

Some forms of Gaucher's disease can be treated by supplying normal copies of the GBA enzyme to break down lipids, but that enzyme cannot cross from the blood into the brain.

From Nature • Jul. 15, 2018

Some diseases — such as neuronopathic Gaucher's disease and spinal muscular atrophy — can cause irreversible symptoms before birth.

From Nature • Jul. 15, 2018

The Aberdeen South MP, who was born with Gaucher's disease, a rare genetic condition which causes regular bone breakages, has chaired the All Party Group on Equalities and the All Party Group on Chronic Pain.

From BBC • Dec. 31, 2010

The 55-year-old from Angus was born with Gaucher's disease, a rare genetic condition which causes regular bone breakages, and has used a wheelchair since 1984.

From BBC • Dec. 31, 2010

The story of Ceredase starts with government-sponsored scientists who in 1965 found that Gaucher's disease resulted from the lack of an enzyme.

From Time Magazine Archive