Niemann-Pick disease: In 1914, German pediatrician Albert Niemann described a young child with brain and nervous system impairment. Later, in the 1920's, Luddwick Pick studied ... more about Niemann-Pick disease.
Niemann-Pick disease: A rare inherited biochemical disorder involving the deficiency of an enzyme (acid sphingomyelinase) needed to break down certain lipids which results in an accumulation of these lipids in the body. More detailed information about the symptoms, causes, and treatments of Niemann-Pick disease is available below.
See full list of 37 symptoms of Niemann-Pick disease
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Prognosis for Niemann-Pick disease: Patients with type A die in infancy. Type B patients may live a comparatively long time, but many require supplemental oxygen because of lung involvement. The life expectancies of patients with types C and D are quite variable. Some patients die in childhood while others who appear to be less drastically affected live into adulthood. (Source: excerpt from NINDS Niemann-Pick Disease Information Page: NINDS)
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The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.
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In 1914, German pediatrician Albert Niemann described a young child with brain and nervous system impairment. Later, in the 1920's, Luddwick Pick studied tissues after the death of such children and provided evidence of a new disorder, distinct from those storage disorders previously described. (Source: Genes and Disease by the National Center for Biotechnology)
Niemann-Pick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow, and, in some patients, the brain. (Source: excerpt from NINDS Niemann-Pick Disease Information Page: NINDS)
A disorder of lipid metabolism that is inherited as an autosomal recessive trait - (Source - WordNet 2.1)
Niemann-Pick disease is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Niemann-Pick disease, or a subtype of Niemann-Pick disease,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
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