Niemann Spleen

Niemann-Pick disease Sphingomyeiinase Cer-i-P—choline Sphingomyelin Enlarged liver and spleen, mental retardation fatal in early life. 

For example, Niemann-Piclc disease is caused by a rare genetic defect in the enzyme sphingomyelinase, which cleaves phosphocholine from sphingomyelin. Sphingomyelin accumulates in the brain, spleen, and liver. The disease becomes evident in infants, and causes mental retardation and early death. More common is Tay-Sachs disease, in which ganglioside GM2 accumulates in the brain and spleen (Fig. 2) owing to lack of the enzyme hexosaminidase A. The symptoms of Tay-Sachs disease are progressive retardation in development, paralysis, blindness, and death by the age of 3 or 4 years. 

Accumulation of lipids in spleen cells from a patient with Niemann-Pick disease. 

Niemann-Pick disease Liver and spleen enlargement Mental retardation About 30% with red spot in retina... 

Harzer K, Massenkeil G, Frohlich E. Concurrent increase of cholesterol, sphingomyelin and glucosylceramide in the spleen from non-neurologic Niemann-Pick type C patients but also patients possibly affected with other lipid trafficking disorders. EEBS Lett. 2003 537 177-181. 

Jahn S, Niemann B, Winkler T, Kalden JR, von Baehr R. 1994. Expansion of a B-lympho-cyte clone producing IgM auto-antibodies encoded by a somatically mutated VhI gene in the spleen of an autoimmune patient. Rheumatol Int 13, 187—196. 

Of the four subtypes of Niemann-Pick disease, type A is the most severe. It is inherited as a recessive disorder (i.e., a defective copy of the gene must be inherited from each parent) that results in an absence of the enzyme sphingomyelinase. The absence of this enzyme causes the storage of large amounts of sphingomyelin and cholesterol in the brain, bone marrow, liver, and spleen. 

Tay-Sachs Gaucher s Niemann-Pick Brain Spleen, Uver Several, particularly liver and spleen Glycolipid (gangUoside G t) Cerebrosides containmg glucose Sphingomyelins... 

Chargaff, E. a study of the spleen in a case of Niemann-Pick disease. J. biol. Chem. 130, 503 (1939). 

McFate, R. P. The chemical analyses of liver and spleen from a case of lipoid histiocytosis (Niemann-Pick s disease). Arch. Path. Lab. Med. 6,1054 (1928). 

Niemann-Piek disaase Isphingomyelin lipidesis) (Also see FATS AND OTHER LIPIOS.I taifficiBizt levels of the enzyme sphingomyelinase. Accumulation chiefly ol sphingomyelin and lecithin in the livei. spleen, and central nervous system, enlarged liver and sple mental and physical retardation cherry red spot on retina of eye. None of value. 

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