Other Names for this Disease
- Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body
- Plant sterol storage disease
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Tests & Diagnosis
Sitosterolemia is diagnosed by measuring the levels of plant sterols in the blood, including sitosterol, campesterol, and stigmasterol. Normal cholesterol studies will not diagnosed sitosterolemia because they cannot distinguish among the different sterols. DNA analysis of the ABCG5 and ABCG8 genes can be helpful in detecting mutations and confirming the diagnosis.
Last updated: 4/12/2016
- What is Sitosterolemia?. Sterol & Isoprenoid Research Consortium. 2016; http://www.rarediseasesnetwork.org/cms/stair/Learn-More/Disorder-Definitions.
- Merkens LS, Myrie SB, Steiner RD, Mymin D. Sitosterolemia. GeneReviews. April 4, 2013; http://www.ncbi.nlm.nih.gov/books/NBK131810/.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.