What is Niemann-Pick disease?
What is 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.
- Niemann-Pick disease: 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)
Niemann-Pick disease: Introduction
Types of Niemann-Pick disease:
Types of Niemann-Pick disease:
- Niemann-Pick type A - infant disease with poor prognosis
- Niemann-Pick type B - juvenile form
- Niemann-Pick type C - subtype with brain complications
- Niemann-Pick type D - same as Type C but with Nova Scotia ancentral cause
- more types...»
Broader types of Niemann-Pick disease:
How serious is Niemann-Pick disease?
Complications of Niemann-Pick disease:
see complications of Niemann-Pick disease
Prognosis of 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)
What causes Niemann-Pick disease?
Causes of Niemann-Pick disease: see causes of Niemann-Pick disease
Causes of Niemann-Pick disease: Usually, cellular cholesterol is imported into lysosomes --- 'bags of enzymes' in the cell --- for processing, after which it is released. Cells taken from NP-C patients have been shown to be defective in releasing cholesterol from lysosomes. This leads to an excessive build-up of cholesterol inside lysosomes, causing processing errors. NPC1 was found to have known sterol-sensing regions similar to those in other proteins, which suggests it plays a role in regulating cholesterol traffic.
(Source: Genes and Disease by the National Center for Biotechnology)
What are the symptoms of Niemann-Pick disease?
Symptoms of Niemann-Pick disease:
see symptoms of Niemann-Pick disease
Complications of Niemann-Pick disease:
see complications of Niemann-Pick disease
Can anyone else get Niemann-Pick disease?
Contagion of genetic conditions:
generally not; see details in contagion of genetic diseases.
Inheritance of genetic conditions: see details in inheritance of genetic diseases.
Niemann-Pick disease: Testing
Diagnostic testing: see tests for Niemann-Pick disease.
Misdiagnosis: see misdiagnosis and Niemann-Pick disease.
How is it treated?
Treatments for Niemann-Pick disease:
see treatments for Niemann-Pick disease
Research for Niemann-Pick disease:
see research for Niemann-Pick disease
Name and Aliases of Niemann-Pick disease
Main name of condition: Niemann-Pick disease
Class of Condition for Niemann-Pick disease: genetic
Other names or spellings for Niemann-Pick disease:
NP, Niemann-Pick disease (generic term), Sphingomyelin lipidosis, Sphingomyelinase deficiency
Niemann-Pick disease
Source - WordNet 2.1
Sphingomyelin lipidosis, Sphingomyelinase deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)
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