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Niemann-Pick disease

[ nee-muhn-pik di-zeez ]

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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Word History and Origins

Origin of Niemann-Pick disease1

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

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

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

From BBC

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