What causes sitosterolemia (phytosterolemia)?

Updated: May 24, 2019
  • Author: Robert D Steiner, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

Genetic evaluation of familial recurrences identified sitosterolemia as an autosomal recessive disorder. A disease locus was mapped to band 2p21 in 1998. The causative mutated genes for sitosterolemia, ABCG8 and ABCG5, were identified 2 years later. Interestingly, these 2 genes both map to band 2p21 directly adjacent to each other in opposite orientation and seem to be under common regulatory control.

No other locus is suspected given the different racial origins of the families and the fact that no evidence of genetic heterogeneity has been found.


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