Chylomicron Retention Disease

Common Name(s)

Chylomicron Retention Disease, Chylomicron Retention Disease (CMRD)

Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy ({5:Dannoura et al., 1999}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chylomicron Retention Disease" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 "Chylomicron Retention Disease" returned 4 free, full-text research articles on human participants. First 3 results:

Establishment of reference values of α-tocopherol in plasma, red blood cells and adipose tissue in healthy children to improve the management of chylomicron retention disease, a rare genetic hypocholesterolemia.
 

Author(s): Charlotte Cuerq, Lioara Restier, Jocelyne Drai, Emilie Blond, Adeline Roux, Sybil Charriere, Marie-Caroline Michalski, Mathilde Di Filippo, Emile Levy, Alain Lachaux, Noël Peretti

Journal:

 

Chylomicron retention disease (CMRD), a rare genetic hypocholesterolemia, results in neuro-ophtalmologic damages, which can be prevented by high doses of vitamin E during infancy. In these patients, plasma vitamin E concentration is significantly reduced due to defects of chylomicron ...

Last Updated: 31 Dec 1969

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Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence.
 

Author(s): Tomoo Okada, Michio Miyashita, Junji Fukuhara, Masahiko Sugitani, Takahiro Ueno, Marie-Elisabeth Samson-Bouma, Lawrence P Aggerbeck

Journal:

 

Anderson's Disease (AD)/Chylomicron Retention Disease (CMRD) is a rare hereditary hypocholesterolemic disorder characterized by a malabsorption syndrome with steatorrhea, failure to thrive and the absence of chylomicrons and apolipoprotein B48 post-prandially. All patients studied ...

Last Updated: 31 Dec 1969

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Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).
 

Author(s): Amandine Georges, Jessica Bonneau, Dominique Bonnefont-Rousselot, Jacqueline Champigneulle, Jean P Rabès, Marianne Abifadel, Thomas Aparicio, Jean C Guenedet, Eric Bruckert, Catherine Boileau, Alain Morali, Mathilde Varret, Lawrence P Aggerbeck, Marie E Samson-Bouma

Journal:

 

Anderson's disease (AD) or chylomicron retention disease (CMRD) is a very rare hereditary lipid malabsorption syndrome. In order to discover novel mutations in the SAR1B gene and to evaluate the expression, as compared to healthy subjects, of the Sar1 gene and protein paralogues in ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Chylomicron Retention Disease" returned 1 free, full-text review articles on human participants. First 3 results:

Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.
 

Author(s): Noel Peretti, Agnès Sassolas, Claude C Roy, Colette Deslandres, Mathilde Charcosset, Justine Castagnetti, Laurence Pugnet-Chardon, Philippe Moulin, Sylvie Labarge, Lise Bouthillier, Alain Lachaux, Emile Levy, ,

Journal:

 

Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that cause malnutrition, failure to thrive, growth failure and vitamin E deficiency, as well as other complications. Recently, the ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.