RT Book, Section
A1 Haas, Dorothea
A1 Herman, Gail E.
A1 Hoffmann, Georg F.
A2 Sarafoglou, Kyriakie
A2 Hoffmann, Georg F.
A2 Roth, Karl S.
SR Print(0)
ID 1140318266
T1 Defects of Cholesterol Biosynthesis
T2 Pediatric Endocrinology and Inborn Errors of Metabolism, 2e
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9780071773140
LK accesspediatrics.mhmedical.com/content.aspx?aid=1140318266
RD 2024/04/23
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).