Sitosterolemia

Common Name(s)

Sitosterolemia

Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease (summary by {2:Berge et al., 2000}).
 

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Condition Specific Organizations

Following organizations serve the condition "Sitosterolemia" for support, advocacy or research.

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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 "Sitosterolemia" returned 29 free, full-text research articles on human participants. First 3 results:

Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities.
 

Author(s): Yanhua Su, Zhaoyue Wang, Haiyan Yang, Lijuan Cao, Fang Liu, Xia Bai, Changgeng Ruan

Journal: Haematologica. 2006 Oct;91(10):1392-5.

 

We describe the clinical, biochemical and molecular genetic features of a Chinese family with sitosterolemia, mainly manifested by hematologic abnormalities. The clinical features of three patients were analyzed. Their plasma sterol levels were measured, and ABCG5 and ABCG8 genes ...

Last Updated: 4 Oct 2006

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A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.
 

Author(s): Bhaswati Pandit, Gwang-Sook Ahn, Starr E Hazard, Derek Gordon, Shailendra B Patel

Journal:

 

Sitosterolemia is an autosomal recessive disorder that maps to the sitosterolemia locus, STSL, on human chromosome 2p21. Two genes, ABCG5 and ABCG8, comprise the STSL and mutations in either cause sitosterolemia. ABCG5 and ABCG8 are thought to have evolved by gene duplication event ...

Last Updated: 27 Mar 2006

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Liver transplantation in a patient with sitosterolemia and cirrhosis.
 

Author(s): Tatu A Miettinen, Eric L Klett, Helena Gylling, Helena Isoniemi, Shailendra B Patel

Journal: Gastroenterology. 2006 Feb;130(2):542-7.

 

Sitosterolemia (MIM 210250) is a rare genetic disorder caused by disruption of the normal mechanisms that regulate dietary cholesterol absorption and prevent the accumulation of noncholesterol sterols. As a result of this defect, affected individuals accumulate high concentrations ...

Last Updated: 13 Feb 2006

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

Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism.
 

Author(s): Kazumi Tsubakio-Yamamoto, Makoto Nishida, Yumiko Nakagawa-Toyama, Daisaku Masuda, Tohru Ohama, Shizuya Yamashita

Journal: J. Atheroscler. Thromb.. 2010 Sep;17(9):891-900.

 

Sitosterolemia is a rare, autosomal recessive inherited sterol storage disease associated with high tissue and serum plant sterol concentrations, caused by mutations in the adenosine triphosphate-bind-ing cassette (ABC) transporter ABCG5 or ABCG8 genes. Markedly increased serum concentration ...

Last Updated: 6 Oct 2010

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Genetic basis of sitosterolemia.
 

Author(s): M H Lee, K Lu, S B Patel

Journal: Curr. Opin. Lipidol.. 2001 Apr;12(2):141-9.

 

The molecular mechanisms regulating the amount of dietary cholesterol retained by the body, as well as the body's ability to exclude other dietary sterols selectively, are poorly understood. An average Western diet will contain approximately 250-500 mg of dietary cholesterol and approximately ...

Last Updated: 26 Mar 2001

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Sitosterolemia.
 

Author(s): G Salen, S Shefer, L Nguyen, G C Ness, G S Tint, V Shore

Journal: J. Lipid Res.. 1992 Jul;33(7):945-55.

 

Sitosterolemia is a rare inherited lipid storage disease characterized chemically by the accumulation of plant sterols and 5 alpha-saturated stanols in plasma and tissues. Very low cholesterol synthesis due to a deficiency of HMG-CoA reductase associated with increased intestinal ...

Last Updated: 2 Dec 1992

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Effects of Colesevelam
 

Status: Not yet recruiting

Condition Summary: Sitosterolemia

 

Last Updated: 25 Sep 2013

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