Lipidosis with triglyceride storage disease

Common Name(s)

Lipidosis with triglyceride storage disease, Neutral lipid storage disease

Lipidosis with triglyceride storage disease (also known as neutral lipid storage disease) is a rare group of diseases involving an error in the breakdown and processing (metabolism) of lipids (fats) and their abnormal accumulation in the cells of many tissues throughout the body. There are currently two forms that are distinguishable, neutral lipid storage disease with ichthyosis (see also: NLSDI or Chanarin-Dorfman disease.) and neutral lipid storage disease with myopathy (see also: NLSDM.). In NLSDI, approximately 95% of affected individuals have dry, scaly skin (ichthyosis), intellectual impairment, moderate muscular weakness (myopathy), enlarged and/or impaired liver function, 60% have vision abnormalities, 40% have hearing impairment and 20% have short stature. NLSDM is characterized by adult onset slowly progressive (worsening) muscle weakening affecting the proximal muscles arms and legs (upper portions). About half of affected persons develop heart disease, diabetes, high triglyglercides in the blood, accumulation of fat in the liver and hearing loss.

Both forms are inherited in an autosomal recessive manner. We inherit our genes in pairs, one from each parent typically. Our genes are what control the growth, development and function of our bodies. If a mistake or error (mutation) occurs in a gene, it can cause problems. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers, each of their children have a one in four chance (25%) of having the disease.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lipidosis with triglyceride storage disease" for support, advocacy or research.

Foundation for Ichthyosis and Related Skin Types, Inc.

The Foundation's mission is to educate, inspire, and connect those touched by ichthyosis and related disorders through emotional support, information, advocacy and research funding for better treatments and eventual cures.

Last Updated: 15 Jul 2015

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

Last Updated: 15 Jul 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lipidosis with triglyceride storage disease" for support, advocacy or research.

Foundation for Ichthyosis and Related Skin Types, Inc.

The Foundation's mission is to educate, inspire, and connect those touched by ichthyosis and related disorders through emotional support, information, advocacy and research funding for better treatments and eventual cures.

http://www.firstskinfoundation.org

Last Updated: 15 Jul 2015

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 15 Jul 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lipidosis with triglyceride storage disease" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Lipidosis with triglyceride storage disease" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 4 Oct 2016

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Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M
 

Status: Recruiting

Condition Summary: Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV); Neutral Lipid Storage Disease With Myopathy (NLSD-M)

 

Last Updated: 18 Jul 2016

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