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Disorders of sterol synthesis: Beyond Smith–Lemli–Opitz syndrome
Author(s) -
Herman Gail E.,
Kratz Lisa
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.31340
Subject(s) - smith–lemli–opitz syndrome , sterol , lanosterol , cholesterol , medicine , bioinformatics , biology , enzyme , endocrinology , biochemistry , 7 dehydrocholesterol reductase , reductase
Since the discovery in 1993 that Smith–Lemli–Opitz syndrome (SLOS) is a disorder of cholesterol biosynthesis, human disorders associated with additional enzymes involved in the conversion of lanosterol to cholesterol have been identified. This review will focus primarily on the clinical aspects of these disorders, highlighting newly described syndromes, such as SC4MOL deficiency and CK syndrome. We will also provide clinical descriptions of additional cases for extremely rare disorders, such as desmosterolosis. We will compare and contrast the findings with those found in SLOS and briefly discuss possible mechanisms of disease pathogenesis. © 2012 Wiley Periodicals, Inc.