Niemann-Pick disease

Niemann-Pick disease
/nee"meuhn pik"/, Pathol.
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.
[described independently by German physicians Albert Niemann (1880-1921) in 1914 and Ludwig Pick (1868-1935?) in 1926]

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▪ medical disorder
      inherited metabolic disorder in which a deficiency of the enzyme sphingomyelinase impairs the breakdown of the phospholipids lecithin and sphingomyelin, causing them to accumulate in various body tissues. Symptoms consist of extreme liver and spleen enlargement, mental retardation, and a brownish-yellow skin discoloration; foamy cells containing phospholipids are found in several organs.

      There are five distinct varieties of the disease, the most common of which is the acute infantile form (type A). Affected infants are retarded in growth; they lose weight and undergo a decline in mental and neurologic functions, usually dying by age four. In the chronic visceral form (type B), development is normal for several years until poor muscle coordination and liver enlargement become apparent; there are no mental or other neurologic symptoms. Type C, which appears in adolescence, is similar to the acute infantile form, as is type D, which is found among a small group of people whose common ancestry is traced to Nova Scotia. The rare adult form (type E) resembles chronic visceral disease, but symptoms leading to diagnosis do not become apparent until adulthood.

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Universalium. 2010.

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  • Niemann-Pick disease — noun a disorder of lipid metabolism that is inherited as an autosomal recessive trait • Hypernyms: ↑inborn error of metabolism, ↑lipidosis, ↑autosomal recessive disease, ↑autosomal recessive defect * * * ˈnēˌmänˈpik noun Usage: usually… …   Useful english dictionary

  • Niemann-Pick disease — an inherited (autosomal recessive) disorder of lipid metabolism due to a defect in the enzyme sphingomyelinase and resulting in accumulation of sphingomyelin and other phospholipids in the bone marrow, brain, liver, and spleen. Patients present… …   The new mediacal dictionary

  • Niemann-Pick disease — Severe lysosomal storage disease caused by deficiency in sphingomyelinase; excess sphingomyelin is stored in ‘foam’ cells (macrophages) in spleen, bone marrow and lymphoid tissue. More common in Ashkenazi Jews than other groups …   Dictionary of molecular biology

  • Niemann-Pick disease — …   Википедия

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