Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

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Case Report, J Genet Disor Genet Rep Vol: 2 Issue: 1

Long-Term Follow-Up of a Patient with Sitosterolemia and Hemolytic Anemia with Excellent Response to Ezetimibe

Alfonso Quintás-Cardama1* and John J. McCarthy2
1Department of Leukemia, M.D. Anderson Cancer Center, Houston, TX, USA
2Methodist Hospital, Houston, TX, USA
Corresponding author : Alfonso Quintás-Cardama
Department of Leukemia, UT MD Anderson Cancer Center, Unit 428, 1515 Holcombe Blvd, Houston, TX 77030
Tel: 713-745-4009
E-mail: [email protected]
Received: December 04, 2012 Accepted: January 10, 2013 Published: January 10, 2013
Citation: Quintás-Cardama A, McCarthy JJ (2013) Long-Term Follow-Up of a Patient with Sitosterolemia and Hemolytic Anemia with Excellent Response to Ezetimibe. J Genet Disor Genet Rep 2:1. doi:10.4172/2327-5790.1000102

Abstract

Long-Term Follow-Up of a Patient with Sitosterolemia and Hemolytic Anemia with Excellent Response to Ezetimibe

Sitosterolemia (MIM #210250), also known as phytosterolemia, first described in 1974, is characterized by disruption of the normal homeostatic mechanisms that regulate dietary cholesterol absorption and prevent the accumulation of non-cholesterol sterols. Phytosterols are almost undetectable in plasma from normal individuals. Sitosterolemia is inherited in an autosomal recessive fashion and results from mutations in two genes at the STSL locus that maps to human chromosome 2p21: the ATP-binding cassette,subfamily G, members 5 and 8 (ABCG5 and ABCG8), that encode two proteins known as sterolin-1 and -2.

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