Niemann-Pick disease


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Related to Niemann-Pick disease: Tay-Sachs disease, Gaucher disease

Niemann-Pick disease

 [ne´mahn pik´]
a lysosomal storage disease due to sphingomyelin accumulation in the reticuloendothelial system; there are five types distinguished by age of onset, amount of central nervous system involvement, and degree of enzyme deficiency. At least some types are characterized by foamy reticular cells containing phospholipids which infiltrate the liver, spleen, lungs, lymph nodes, and bone marrow.

Nie·mann-Pick dis·ease

(nē'mahn pik), [MIM*257200]
lipidosis with accumulation of sphingomyelin in histiocytes in the liver, spleen, lymph nodes, and bone marrow due to a deficiency of sphingomyelinase; associated with hepatosplenomegaly, physical and mental retardation, and neurologic manifestations; macular cherry-red spots may occur at a later stage; occurs most commonly in Ashkenazi Jewish infants and leads to early death; a more benign form may occur in adults. There are several variants: type A, the classic infantile form; type B, the visceral form; type C, the juvenile form; type D, the Nova Scotia variant; and type E, the adult form; all are of autosomal recessive inheritance with types A and B caused by mutation in the acid sphingomyelinase gene (SMPD) on chromosome 11p.

Niemann-Pick disease

(nē′mən-pĭk′)
n.
An inherited disorder of lipid metabolism characterized by the accumulation of lipids in the spleen and liver and sometimes in the lungs, bone marrow, and brain. It is divided into several types, one of which occurs chiefly in infants of eastern European Jewish descent.

Niemann-Pick disease

Metabolism A rapidly progressive AR storage disease with progressive neurologic damage due to sphingomyelinase deficiency; NPD type A is AR, more common in Ashkenazi Jews and is characterized by accumulation of excess sphingomyelin and cholesterol in the brain, BM, liver, spleen Clinical Early infancy onset with feeding problems and delayed or regressing motor development, progressive vision and hearing loss; late onset NPD is characterized by movement disorders and seizures. See Niemann-Pick cell.

Niemann-Pick disease

An autosomal recessive hereditary disease in which the absence of an enzyme causes defective metabolism of SPHINGOMYELIN. A sphingolipidosis. There is abnormal accumulation of sphingomyelin causing enlargement of the liver and spleen, anaemia and severe neurological damage leading to physical and mental retardation and often death in early childhood. At least six varieties, having differing prognoses, have been described. Some have onset in adult life and do not affect the nervous system. The gene was identified in 1997. (Albert Neimann, 1880–1921, German paediatrician; and Ludwig Pick, 1868–1935, German physician).

Niemann,

Albert, German physician, 1880-1921.
Niemann disease - Synonym(s): Niemann-Pick disease
Niemann splenomegaly - enlargement of spleen occurring in Niemann-Pick disease.
Niemann-Pick cell - Synonym(s): Pick cell
Niemann-Pick disease - lipid histiocytosis that occurs most commonly in Jewish infants and leads to early death. Synonym(s): Niemann disease; sphingomyelin lipidosis

Pick,

Ludwig, German physician, 1868-1935.
Niemann-Pick cell - Synonym(s): Pick cell
Niemann-Pick disease - see under Niemann
Pick cell - a relatively large mononuclear cell widely distributed in the spleen and other tissues in Niemann-Pick disease. Synonym(s): Niemann-Pick cell
Pick tubular adenoma - a testicular tumor. Synonym(s): androblastoma
References in periodicals archive ?
Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review.
The pathogenesis and treatment of acid sphingomyelinase deficient Niemann-Pick disease. J Inherit Metab Dis.
Niemann-Pick disease Type C affects 1:100,000 live births and is most commonly caused by dysfunction of the NPC1 protein leading to the accumulation of lipids in lysosomes, resulting in impaired cell function and cell death in various organs, leading to a spectrum of symptoms in NPC patients.
Arimoclomol, the company's lead candidate, is in clinical development for the four orphan diseases of Niemann-Pick disease Type C, Gaucher disease, sporadic Inclusion Body Myositis, and Amyotrophic Lateral Sclerosis.
The National Niemann-Pick Disease Foundation (NNPDF) is in the midst of kicking off activities supporting the 15th Annual October Global Niemann-Pick Disease Awareness Month!
[USPRwire, Sun May 03 2015] Global Markets Direct's, 'Acid Sphingomyelinase Deficiency (Niemann-Pick Disease) - Pipeline Review, H1 2015', provides an overview of the Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)'s therapeutic pipeline.
Lipid storage disorders associated with hepatomegaly and splenomegaly in the first few months of life include GM1-gangliosidosis type I, Gaucher disease, and Niemann-Pick disease [7].
LEAH'S DREAM, ITV1, Tuesday, 9pm: Leah Garfitt is nine and one of only 500 children in the world with Niemann-Pick Disease, which will eventually kill her.
The rare condition, Niemann-Pick disease, type C, will gradually rob her of the ability to talk and walk - and will shorten her life.
Dietschy cautioned that the findings in no way represent a Niemann-Pick disease cure.
Little Lucy Mathieson, four, died four years after being diagnosed with terminal Niemann-Pick disease type C at just five weeks old.