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

[nē′mon pik′]
Etymology: Albert Niemann, German pediatrician, 1880-1921; Ludwig Pick, German pediatrician, 1868-1935
an inherited disorder of lipid metabolism in which there are accumulations of sphingomyelin in the bone marrow, spleen, and lymph nodes. The disease, which in the United States and Canada is most common among Jewish people, begins in infancy or childhood and is characterized by enlargement of liver and spleen, anemia, lymphadenopathy, and progressive mental and physical deterioration. There is no effective treatment, and children with the disease usually die within a few years of the onset of symptoms. See also sphingomyelin lipidosis.
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Niemann-Pick disease of the liver

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

Niemann-Pick disease

References in periodicals archive ?
Niemann-Pick disease (NPD) refers to a group of inherited metabolic disorders known as the leukodystrophies or lipid storage diseases, in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the brain.
5), who found no significant decrease of GCG activity in cell homogenates from patients with Niemann-Pick disease.
I would like to publicly thank Ursula for all her hard work," said Toni, who is national development manager of the Niemann-Pick Disease Group (UK) and with husband Stewart, 37, has won praise for fundraising to find a cure for the condition.
The acid [alpha]-glucosidase protein was increased in individuals with acid lipase deficiency, mucolipidosis II/III, Gaucher disease, and Niemann-Pick disease (type A/B).
Five years ago, Elisa and Jim Ross lost their two-year-old son to Niemann-Pick disease, one of the 11 diseases for which genetic carrier screening is available.
Similarly, fibroblast cells (found in connective tissue) from people with Niemann-Pick disease were resistant to Ebola virus infection, as were human cells from other organs that were manipulated to reduce the amount of NPC1 they contained.
Increases as much as 80-fold have been observed in the spleens, livers, and brains of patients affected with Gaucher disease, Niemann-Pick disease (type 1), fucosidosis, Tay-Sachs disease, and Sandhoff disease (18,19).
The expanded panel tests for nine autosomal recessive diseases and consists of Bloom syndrome, Canavan disease, Cystic fibrosis, Familial dysautonomia, Fanconi anemia, Glycogen, Niemann-Pick disease type A, and Tay-Sachs disease.
Franchesca Polo, 14, of Brooklyn, NY - Franchesca was diagnosed with Niemann-Pick disease type B, a progressive disease that impacts her liver, spleen and lungs.
Lucy Mathieson, two, has the terminal Niemann-Pick disease type C, a genetic condition which affects just 300 people worldwide.
PCA Rx is also used for Alzheimer's, candida, cervical dystonia, chemical exposure, heart disease, hepatitis, herpes, Lyme disease, paralysis, Niemann-Pick disease and uterine fibroids.