Abetalipoproteinemia

Common Name(s)

Abetalipoproteinemia

Abetalipoproteinemia is a disease in which a person is unable to fully absorb dietary fats, cholesterol and fat-soluble vitamins. Signs and symptoms appear in the first few months of life and can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; acanthocytosis; and stool abnormalities. Other features of this disorder may develop later in childhood and often impair the function of the nervous system, potentially causing poor muscle coordination, ataxia, and an eye disorder called retinitis pigmentosa. Abetalipoproteinemia is usually caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner. Treatment may include dietary modification and various dietary supplements.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Abetalipoproteinemia" 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 "Abetalipoproteinemia" returned 38 free, full-text research articles on human participants. First 3 results:

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
 

Author(s): Mathilde Di Filippo, Hervé Créhalet, Marie Elisabeth Samson-Bouma, Véronique Bonnet, Lawrence P Aggerbeck, Jean-Pierre Rabès, Frederic Gottrand, Gérald Luc, Dominique Bozon, Agnès Sassolas

Journal: J. Lipid Res.. 2012 Mar;53(3):548-55.

 

Abetalipoproteinemia (ABL) is an inherited disease characterized by the defective assembly and secretion of apolipoprotein B-containing lipoproteins caused by mutations in the microsomal triglyceride transfer protein large subunit (MTP) gene (MTTP). We report here a female patient ...

Last Updated: 29 Feb 2012

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Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function.
 

Author(s): Sebastian Zeissig, Stephanie K Dougan, Duarte C Barral, Yvonne Junker, Zhangguo Chen, Arthur Kaser, Madelyn Ho, Hannah Mandel, Adam McIntyre, Susan M Kennedy, Gavin F Painter, Natacha Veerapen, Gurdyal S Besra, Vincenzo Cerundolo, Simon Yue, Sarah Beladi, Samuel M Behar, Xiuxu Chen, Jenny E Gumperz, Karine Breckpot, Anna Raper, Amanda Baer, Mark A Exley, Robert A Hegele, Marina Cuchel, Daniel J Rader, Nicholas O Davidson, Richard S Blumberg

Journal: J. Clin. Invest.. 2010 Aug;120(8):2889-99.

 

Abetalipoproteinemia (ABL) is a rare Mendelian disorder of lipid metabolism due to genetic deficiency in microsomal triglyceride transfer protein (MTP). It is associated with defects in MTP-mediated lipid transfer onto apolipoprotein B (APOB) and impaired secretion of APOB-containing ...

Last Updated: 3 Aug 2010

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Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation.
 

Author(s): Nuray Uslu, Figen Gürakan, Aysel Yüce, Hülya Demir, Patrizia Tarugi

Journal: Turk. J. Pediatr.. ;52(1):73-7.

 

Abetalipoproteinemia (ABL) is a rare autosomal disorder characterized by extremely low levels of plasma lipids and apolipoprotein B (apoB) with a variable phenotype. Mutations in the MTP gene encoding the microsomal triglyceride transfer protein (MTP) cause the disease. A five-month-old ...

Last Updated: 20 Apr 2010

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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 "Abetalipoproteinemia" returned 1 free, full-text review articles on human participants. First 3 results:

Abetalipoproteinemia: two case reports and literature review.
 

Author(s): Rola Zamel, Razi Khan, Rebecca L Pollex, Robert A Hegele

Journal:

 

Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, ...

Last Updated: 16 Jul 2008

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Lipoprotein Metabolism in Normal Volunteers and Patients With High Levels of Lipoproteins
 

Status: Recruiting

Condition Summary: Abetalipoproteinemia; Atherosclerosis; Healthy; Inborn Errors Lipid Metabolism

 

Last Updated: 14 Mar 2014

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