Niemann-Pick disease


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

Niemann-Pick disease

[′nē‚män ′pik di‚zēz]
(medicine)
A hereditary sphingolipidosis due to an enzyme deficiency resulting in abnormal accumulation of sphingomyelin; symptoms include anemia, enlargement of the liver, spleen, and lymph nodes, gastrointestinal disturbances, and various neurologic deficits. Also known as lipid hystiocytosis.
References in periodicals archive ?
However, the increases observed in patients with Gaucher disease and Niemann-Pick disease (type A/B) resulted primarily from an increase in the mature form of the protein.
is a national campaign promoting genetic testing for the following diseases: Bloom Syndrome, Canavan Disease, Cystic Fibrosis, Familial Dysautonomia, Fanconi Anemia type c, Gaucher Disease, Glycogen, Mucolipidosis IV, Type A Niemann-Pick Disease, and Tay-Sachs Disease.
Together the saposins identified >80% of individuals in 15 of the 28 LSD groups; increased LAMP-1 concentrations had not been observed previously in 6 of these LSDs (13), namely cystinosis, Fabry disease, Niemann-Pick disease (types A/B and C), Pompe disease, and Wolman disease.
Niemann-Pick disease type A is caused by an abnormal accumulation of lipid (fat-like substance) in different cells of the body.
Her parents, Toni, 37, and Stewart, 36, of Fatfield, Washington, started fundraising in October 2004 for the Niemann-Pick Disease Group, hoping to find a cure for the disease.
24 /PRNewswire/ -- Guidepoint Global, LLC, a leading primary research firm, today announced the launch of their Genetic Disorder Tracker, a monthly longitudinal data release that captures commercial trends, on a worldwide basis, associated with the treatment of eight rare genetic disorders: Gaucher's disease, Fabry's disease, PKU, MPS I (Hurler Syndrome), MPS II (Hunter Syndrome), MPS VI (Maroteaux-Lamy Syndrome), Niemann-Pick disease and Pompe disease.
In October, 2004, the couple organised a children's Hallowe'en party ( their first event for the charity Niemann-Pick Disease Group (UK).
today announced the publication of a new study in The Proceedings of the National Academy of Sciences describing a novel preclinical gene therapy approach for treating Niemann-Pick disease.
A year ago, they organised a children's Hallowe'en party ( their first event for the charity Niemann-Pick Disease Group (UK).
Lucy Mathieson, two, was born with Niemann-Pick disease type C, a genetic condition affecting 50 to 60 people in the UK.
Specifically, Tm Bioscience has acquired rights for gene patents associated with: Bloom's Syndrome, Canavan Disease, Familial Dysautonomia, Gaucher Disease and Niemann-Pick Disease.