TY - CHAP M1 - Book, Section TI - Disorders of Cholesterol Synthesis A1 - Kanungo, Shibani A1 - Steiner, Robert D. A2 - Kline, Mark W. PY - 2018 T2 - Rudolph's Pediatrics, 23e AB - Cholesterol is an essential lipid, available through diet but also synthesized endogenously from acetyl-coenzyme A, formed as a byproduct of glucose and fatty acids through glycolysis and β-oxidation pathways, respectively. Cholesterol is a major end product of the isoprenoid and sterol biosynthetic pathway involving numerous enzymatic steps. Enzymatic defects in the pre-squalene cholesterol synthesis pathway are responsible for inherited sterol disorders such as mevalonic aciduria (MVA) and hyper-immunoglobulinemia D and periodic fever syndrome (HIDS). In the descending post-squalene pathway, enzymatic defects are responsible for disorders such as Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1), congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome, CK syndrome, sterol C4 methyl oxidase deficiency (SC4MOL), X-linked dominant chondrodysplasia punctata 2 (CDPX2)/Conradi-Hünermann syndrome, lathosterolosis, desmosterolosis, and the widely known Smith-Lemli-Opitz syndrome (SLOS). Hydrops-ectopic calcification–moth-eaten (HEM)/Greenberg skeletal dysplasia was earlier thought to be a disorder of sterol metabolism but more recently has been shown to be a laminopathy. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1182929807 ER -