Niemann-Pick disease

American  

[nee-muhn-pik di-zeez] / ˈni mənˈpɪk dɪˈziz /

noun

Pathology.

1. a rare, hereditary lipid-storage disease, occurring primarily among Ashkenazic Jews, in which abnormal lipid metabolism results in enlargement of the liver, spleen, and lymph nodes, and in progressive mental and physical deterioration.

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Etymology

Origin of Niemann-Pick disease

Described independently by German physicians Albert Niemann (1880–1921) in 1914 and Ludwig Pick (1868–1944) in 1926

Example Sentences

But then both of them experienced troubling symptoms, precipitating multiple medical tests, and then finally, a devastating dual diagnosis: a rare, debilitating and fatal neurodegenerative disease known as Niemann-Pick disease type C.

From Salon

Orphazyme said its application for FDA approval of arimoclomol, a treatment for genetic disorder Niemann-Pick disease type C, had not been successful.

From Reuters

These include potential treatments for sickle cell anemia and Niemann-Pick disease, a lethal metabolic disorder.

From Science Magazine

“It is not unheard of to develop Niemann-Pick disease as an adult, but it is very, very rare,” Dr. Toro said.

From New York Times

She was diagnosed at six years old with the neuro-degenerative condition Niemann-Pick disease type C.

From BBC