RT Book, Section
A1 Vockley, Jerry
A2 Kline, Mark W.
SR Print(0)
ID 1182928979
T1 Disorders of Ketogenesis
T2 Rudolph's Pediatrics, 23e
YR 2018
FD 2018
PB McGraw-Hill Education
PP New York, NY
SN 9781259588594
LK accesspediatrics.mhmedical.com/content.aspx?aid=1182928979
RD 2024/04/19
AB Hepatic  biosynthesis  of  ketone  bodies  involves  the  condensation  of  acetyl-coenzyme  A  (CoA)  and  acetoacetyl-CoA  to  hydroxymethylglutaryl-CoA  (HMG-CoA)  by  HMG-CoA  synthase,  followed  by  hydrolysis  of  HMG-CoA  to  acetyl-CoA  and  acetoacetic  acid  (AcAc)  by  HMG-CoA  lyase  as  the  final  step  in  leucine  degradation.  AcAc  is  reduced  to  3-hydroxybutyric  acid  (3HB),  and  extrahepatic  tissues  use  the  2  ketone  bodies  as  energy  sources  during  fasting  (ketolysis).  Recessively  inherited  defects  of  HMG-CoA  synthase  (HMGCS2)  and  HMG-CoA  lyase  (HMGCL)  cause  hypoketotic  hypoglycemia  during  fasting,  and  defects  of  ketolysis  cause  persistent  or  episodic  ketoacidosis.