TY - CHAP M1 - Book, Section TI - Defects of Cholesterol Biosynthesis A1 - Haas, Dorothea A1 - Herman, Gail E. A1 - Hoffmann, Georg F. A2 - Sarafoglou, Kyriakie A2 - Hoffmann, Georg F. A2 - Roth, Karl S. Y1 - 2017 N1 - T2 - Pediatric Endocrinology and Inborn Errors of Metabolism, 2e AB - Cholesterol plays an essential role in many cellular and developmental processes. In addition to being a structural lipid in membranes and myelin, cholesterol is the precursor for bile acids, steroid hormones, neurosteroids, and oxysterol synthesis. Subcellular organelles such as caveolae and lipid rafts are enriched in cholesterol. Finally, cholesterol is necessary for the modification and the function of several hedgehog signaling proteins that control embryonic development. Most defects of cholesterol synthesis are caused by enzyme deficiencies in the post-squalene portion of the pathway (Figures 23-1 and 23-2). Only mevalonate kinase deficiency (MKD), resulting in a multisystemic (inflammatory) disorder with mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) as the extremes of a disease spectrum, is found in the proximal part of the pathway (Figure 23-3). SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1140318266 ER -