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Which are the causes of Niemann-Pick Disease?

See some of the causes of Niemann-Pick Disease according to people who have experience in Niemann-Pick Disease

Niemann-Pick Disease causes

Niemann-Pick Disease: Causes and Risk Factors


Niemann-Pick Disease (NPD) is a rare genetic disorder that affects the body's ability to metabolize lipids, leading to the accumulation of harmful substances in various organs. It is caused by mutations in specific genes that are responsible for the production of enzymes involved in lipid metabolism. There are several types of Niemann-Pick Disease, including types A, B, C, and D, each caused by mutations in different genes.



Type A and Type B:


Niemann-Pick Disease Type A and Type B are caused by mutations in the SMPD1 gene, which provides instructions for producing an enzyme called acid sphingomyelinase (ASM). This enzyme is responsible for breaking down a lipid called sphingomyelin. In individuals with Type A, the SMPD1 gene mutations result in little to no production of functional ASM, leading to the accumulation of sphingomyelin in various tissues and organs. Type B is a milder form of the disease, where some functional ASM is produced, but at reduced levels.



Type C:


Niemann-Pick Disease Type C is caused by mutations in either the NPC1 or NPC2 gene. These genes provide instructions for producing proteins involved in the transport and processing of lipids within cells. Mutations in either gene disrupt the normal function of these proteins, leading to the accumulation of cholesterol and other lipids in various tissues and organs. The exact mechanisms by which these mutations cause lipid accumulation are not fully understood, but it is believed to involve impaired lipid trafficking and storage within cellular compartments.



Type D:


Niemann-Pick Disease Type D is caused by mutations in the NPC1 gene, similar to Type C. However, Type D is considered a distinct subtype due to differences in the specific mutations and clinical presentation. The mutations in the NPC1 gene associated with Type D are more common in individuals of Nova Scotian and Acadian descent.



Inheritance:


Niemann-Pick Disease is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the disease. If both parents are carriers of a Niemann-Pick Disease mutation, each child has a 25% chance of inheriting two copies of the mutated gene and developing the disease.



Risk Factors:


The primary risk factor for Niemann-Pick Disease is having a family history of the condition. If one or both parents carry a mutation in the genes associated with Niemann-Pick Disease, there is an increased risk of having a child with the disease. Genetic testing can be performed to identify carriers of Niemann-Pick Disease mutations, allowing individuals to make informed reproductive decisions.



Conclusion:


Niemann-Pick Disease is a rare genetic disorder caused by mutations in specific genes involved in lipid metabolism. The different types of Niemann-Pick Disease are associated with mutations in different genes, leading to impaired lipid processing and accumulation in various tissues and organs. Understanding the causes and risk factors of Niemann-Pick Disease is crucial for early diagnosis, genetic counseling, and the development of potential treatments.


Diseasemaps
3 answers
Both parents have to carry the gene which is passed on to the affected child

Posted Jan 23, 2019 by pamela carlin 1700
Translated from spanish Improve translation
Accumulation of lipídos in the cells of the spleen, liver, and brain.

Posted Feb 28, 2017 by ahlam_clc 1800

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NIEMANN-PICK DISEASE STORIES
Niemann-Pick Disease stories
My name is April.  I am 34 and live in the San Antonio, Texas area.  I was born with Niemann Pick Type B (ASMD).  I was diagnosed at Loma Linda in California when I was 2 while in the hospital with Mono.   I had multiple surgeries growing up.  M...
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My name is Dylan,  I am the father of Amber Ashlee Jelsma who passed away on 10/10/2013.
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ME CHAMO ROSANGELA, SOU MÃE DE UMA PORTADORA DE NIEMANN PICK TIPO B, ELA TEM 14 ANOS, MORAMOS NO BRASIL. ELA TEM O SINTOMAS DESDES OS 4 ANOS DE IDADE, MAS SOMENTE AOS 8 ANOS TIVEMOS O DIAGNOSTICO DE NPB, DESDE ENTÃO NÃO FAZEMOS OUTRA COISA A NÃO...
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Haven was diagnosed at 4 mos. with Niemann-Pick Type A. He passed away at 14 mos. 
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My daughter Kaitlyn Kay Bourgeault had Niemann Pick Disease Type A. Born July 1, 2009. Diagnosed in April 2010. Lived to be 2 years and 8 months old and passed on March 22, 2012.

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