Niemann-Pick Disease

Niemann-Pick Disease is a metabolic disease that results in fat deposition in the body tissues. Typical symptoms include liver enlargement, spleen enlargement, and various related symptoms such as abdominal distention and poor appetite. Note that Niemann-Pick Disease is unrelated to the similarly named brain disorder called Pick Disease ...

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Introduction: Niemann-Pick Disease

Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases. Lipids (fatty materials such as waxes, fatty acids, oils, and cholesterol) and proteins are usually broken down into smaller components to provide energy ...1

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Symptoms of Niemann-Pick Disease

Neurological complications may include ataxia, eye paralysis, brain degeneration, learning problems, spasticity, feeding and swallowing difficulties, slurred speech, loss of muscle tone, hypersensitivity to touch, and some corneal clouding. A characteristic cherry-red halo develops around the center of the ...2

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Causes of Niemann-Pick Disease

Niemann-Pick disease is actually a group of autosomal recessive disorders caused by an accumulation of fat and cholesterol in cells of the liver, spleen, bone marrow, lungs, and, in some patients, brain. Niemann-Pick types A and B result ...3

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Causes List for Niemann-Pick Disease

Some possible causes of Niemann-Pick Disease or similar disorders may include:4

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Types of Niemann-Pick Disease

Niemann-Pick disease is currently subdivided into four categories.

  • Type A
  • Type B
  • Type C
  • Type D

Source: NINDS (NIH)5 ...

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Genetics of Niemann-Pick Disease

Recently, the major locus responsible for Niemann-Pick type C (NP-C) was cloned from chromosome 18, and found to be similar to proteins that play a role in cholesterol homeostasis. Usually, cellular cholesterol is imported into lysosomes—'bags of ...6

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Risk Factors for Niemann-Pick Disease

Type A: This form of the disease occurs most often in Jewish families. Type D; Most type D patients share a common ancestral background in Nova Scotia. ...Source: NINDS (NIH)7 ...

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Treatments: Niemann-Pick Disease

There is currently no cure for Niemann-Pick disease. Treatment is supportive. Children usually die from infection or progressive neurological loss. Bone marrow transplantation has been attempted in a few patients with type B. Patients with types C and D ...8

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Research for Niemann-Pick Disease

What research is being done? Within the Federal government, the primary supporter of research on neurological disorders is the National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health within the U.S. Department ...9

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)10 ...

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  1. Source: NINDS (NIH): disorders/ niemann/ niemann.htm
  2. Source: NINDS (NIH): disorders/ lipid_storage_diseases/ detail_lipid_storage_diseases.htm
  3. ibid.
  4. Source: Algorithmically Generated List
  5. Source: NINDS (NIH): disorders/ lipid_storage_diseases/ detail_lipid_storage_diseases.htm
  6. Source: NCBI, Genes and Disease (NCBI/NIH): books/ NBK22176/ 
  7. Source: NINDS (NIH): disorders/ lipid_storage_diseases/ detail_lipid_storage_diseases.htm
  8. ibid.
  9. ibid.
  10. Source: GHR (NLM/NIH): condition/ niemann-pick-disease

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