Niemann-Pick disease

Información en español Title

Subtypes:

Niemann-Pick disease type A; Niemann-Pick disease type B; Niemann-Pick disease type C1; Niemann-Pick disease type A; Niemann-Pick disease type B; Niemann-Pick disease type C1; Niemann-Pick disease type C2 See More

Summary Summary

Niemann-Pick disease (NPD) is a group of inherited metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain.^[1]^[2] Symptoms may include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech, and an enlarged liver and spleen.^[1] Inheritance is autosomal recessive.^[2]^[3]

Niemann-Pick disease is divided into four main types according to the altered (mutated) gene and the signs and symptoms:^[1]^[3]

Type A, caused by mutations in the SMPD1 gene. It is the most severe form, occurs in early infancy and is seen primarily in Jewish families.
Type B , caused by mutations in the SMPD1 gene. Usually occurs in children, and affects the liver, spleen and lungs (visceral form), but generally does not affect the brain.
Type C1, caused by mutations in the NPC1 gene. May occur at any age and affect the brain and the viscera.
Type C2, caused by homozygous mutation in the NPC2 gene. Similar to type C1, but more severe, and mostly affecting the lungs.

Some classify type A and B as "acid sphingomyelinase (ASM) deficiency".^[4] NP type D is now considered as type C (when affected people are from Nova Scotia, Canada); other rarer types have being described.^[3]^[2]

There is currently no effective treatment for type A. Bone marrow transplantation, enzyme replacement and gene therapies may be helpful for people with type B.^[1] A medication called Miglustat has been shown to stabilize certain neurological symptoms in people with type C. Currently other treatments are under clinical investigation.^[2]^[5]

Last updated: 4/9/2018

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Newborn Screening

An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.

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References References

NINDS Niemann-Pick Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). https://www.ninds.nih.gov/Disorders/All-Disorders/Niemann-Pick-Disease-Information-Page.
Porter FD, Dang Do AN. Niemann Pick Disease Type C. National Organization for Rare Disorders (NORD). 2017; https://rarediseases.org/rare-diseases/niemann-pick-disease-type-c/.
Niemann-Pick disease. Genetics Home Reference (GHR). 2015; http://ghr.nlm.nih.gov/condition=niemannpickdisease.
Wasserstein MP & Schuchman EH. Acid Sphingomyelinase Deficiency:. GeneReviews. 2015; https://www.ncbi.nlm.nih.gov/books/NBK1370/.
Evans WRH, Hendriksz CJ. Niemann–Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment. BJPsych Bulletin. 2017; 41(2):109-114. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376728/.
Niemann-Pick disease. MedlinePlus. 2016; http://www.nlm.nih.gov/medlineplus/ency/article/001207.htm.