Niemann-Pick disease

Niemann-Pick disease: Introduction

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.

Symptoms of Niemann-Pick disease

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

See full list of 37 symptoms of Niemann-Pick disease

Niemann-Pick disease: Complications

Review possible medical complications related to Niemann-Pick disease:

• Death by the age of three in severe cases
• more complications...»

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
• Hidden causes of Niemann-Pick disease (possibly wrongly diagnosed)
• Undiagnosed: Niemann-Pick disease

Causes of Niemann-Pick disease

Read more about causes of Niemann-Pick disease.

More information about causes of Niemann-Pick disease:

• Niemann-Pick disease as a symptom
• Medical news summaries relating to Causes of Niemann-Pick disease

News Archives for Niemann-Pick disease

Medical news articles related to Niemann-Pick disease include:

• Peppers Picked as Salmonella Culprit
• Government Picks Up Health Tab of Uninsured Workers
• Picking the Right Toys Isn't Child's Play
• Water Picks Up Odor From Plastic Pipes
• more health news...»

Source: HealthDay News

Evidence Based Medicine Research for Niemann-Pick disease

Medical research articles related to Niemann-Pick disease include:

• Cerebral Palsy: An Overview
• Lipid Storage Disorders (Diagnosis)
• Diseases of Tetrapyrrole Metabolism: Refsum Disease and the Hepatic Porphyrias (Diagnosis)
• Generalised Lymphadenopathy
• Glycogen-Storage Disease Type I (Diagnosis)
• Gastrointestinal History and Examination
• more research...»

Click here to find more evidence-based articles on the TRIP Database

Videos for Niemann-Pick disease

Patient Surveys for Niemann-Pick disease

• Patient Profile Survey
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• Survey about the symptoms of your 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)

More about prognosis of Niemann-Pick disease

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)
• more trials...»

See full list of 6 Clinical Trials for Niemann-Pick disease

Niemann-Pick disease: Broader Related Topics

• Genetic Disease
• more types...»

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...»

Read more about Types of Niemann-Pick disease

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User Interactive Forums

Read about other experiences, ask a question about Niemann-Pick disease, or answer someone else's question, on our message boards:

• I can not get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for this?
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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)