Lipid Metabolism, Inborn Errors, Sitosterolemia
Conditions
Keywords
endocrine disorders, inborn errors of metabolism, rare disease, sitosterolemia
Brief summary
OBJECTIVES: I. Identify the genetic defect and fine map the gene that causes sitosterolemia.
Detailed description
PROTOCOL OUTLINE: Patients, family members, and normal volunteers provide blood samples for genetic studies and may fill out a general health and medication history. Linkage analysis and microsatellite screening is performed on genomic DNA, especially chromosome 2p21, between microsatellite markers D2S1788 and D2S1352. Positive results may be reported to the patient and may influence future treatment.
Interventions
PROCEDUREgenetic testing
Sponsors
Medical University of South Carolina
National Center for Research Resources (NCRR)
Study design
Observational model
NATURAL_HISTORY
Eligibility
Sex/Gender
ALL
Age
0 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
PROTOCOL ENTRY CRITERIA: --Disease Characteristics-- * Diagnosis of sitosterolemia Presence of tendon and tuberous xanthomas Premature atherosclerotic disease No family history of premature coronary artery disease Normal or elevated plasma cholesterol levels OR * Family member of patient with sitosterolemia OR * Normal volunteer
Countries
United States
Outcome results
None listed