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Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders
Author(s) -
Svoboda Melissa D.,
Christie Jill M.,
Eroglu Yasemen,
Freeman Kurt A.,
Steiner Robert D.
Publication year - 2012
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31347
Subject(s) - smith–lemli–opitz syndrome , sterol , medicine , cholesterol , biology , biochemistry , 7 dehydrocholesterol reductase , reductase , enzyme
Smith–Lemli–Opitz syndrome (SLOS) is an autosomal recessive genetic condition with a broad phenotype that results from deficiency of the final enzyme of the cholesterol synthesis pathway. This defect causes low or low‐normal plasma cholesterol levels and increased 7‐ and 8‐dehydrocholesterol (DHC) levels. Many therapies for SLOS and other disorders of sterol metabolism have been proposed, and a few of them have been undertaken in selected patients, but robust prospective clinical trials with validated outcome measures are lacking. We review the current literature and expert opinion on treatments for SLOS and other selected sterol disorders, including dietary cholesterol therapy, statin treatment, bile acid supplementation, medical therapies, and surgical interventions, as well as directions for future therapies and treatment research. © 2012 Wiley Periodicals, Inc.