Niemann-Pick disease

Introduction: Niemann-Pick disease

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 ... 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.

Symptoms of Niemann-Pick disease

• Symptoms depend on the NP subtype but may include:
• Liver enlargement
• Spleen enlargement
• Pulmonary difficulties
• Brain-related problems

See full list of 37 symptoms of Niemann-Pick disease

Medical Textbooks Online about Niemann-Pick disease

Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

Wrongly Diagnosed with Niemann-Pick disease?

• Misdiagnosis of Niemann-Pick disease
• Failure to diagnose Niemann-Pick disease
• Underlying causes of Niemann-Pick disease (possibly wrongly diagnosed)
• Failure to diagnose Niemann-Pick disease

Causes of Niemann-Pick disease

Read more about causes of Niemann-Pick disease.

More information about causes of Niemann-Pick disease:

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Prognosis for Niemann-Pick disease

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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Reseach about Niemann-Pick disease

Visit our research pages for current research about Niemann-Pick disease treatments.

Clinical Trials for Niemann-Pick disease

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Niemann-Pick disease include:

• Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation - This study is no longer recruiting patients (Current: 23 Nov 2006)
• PET Scan of Brain Metabolism in Relation to Age and Disease - This study has been completed (Current: 23 Nov 2006) - 15 O Water
• Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease - This study is no longer recruiting patients (Current: 23 Nov 2006) - OGT918
• Stem Cell Transplant for Inborn Errors of Metabolism - This study is currently recruiting patients (Current: 23 Nov 2006) - Busulfan,Cyclophosphamide,ATG
• Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C - This study is currently recruiting patients (Current: 23 Nov 2006)

See full list of 6 Clinical Trials for 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

Read more about Types of Niemann-Pick disease

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Article Excerpts about Niemann-Pick disease

Genes and Disease by the National Center for Biotechnology (Excerpt)

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)

NINDS Niemann-Pick Disease Information Page: NINDS (Excerpt)

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)

Definitions of 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)