RT Book, Section
A1 Pascual, Juan M.
A1 Dimauro, Salvatore
A2 Rudolph, Colin D.
A2 Rudolph, Abraham M.
A2 Lister, George E.
A2 First, Lewis R.
A2 Gershon, Anne A.
SR Print(0)
ID 6726550
T1 Chapter 159. Disorders of Energy Metabolism
T2 Rudolph's Pediatrics, 22e
YR 2011
FD 2011
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-149723-7
LK accesspediatrics.mhmedical.com/content.aspx?aid=6726550
RD 2024/04/19
AB Surprisingly,  the  number  of  energy  metabolism  disorders  compatible  with  life  is  still  expanding,  and  their  manifestations  are  reaching  truly  pleomorphic  proportions.  Collectively,  these  disorders  spare  no  organ  or  tissue  and  can  mimic  many  of  the  diseases  routinely  encountered  by  primary  care  clinicians.  In  addition  to  the  well-known  role  of  energy  metabolism  enzymes  in  balancing  the  flux  of  high-energy  bonds  inside  cells  and  the  supply  of  fuels  to  them,  some  also  seem  to  serve  multiple  roles.  For  example,  mutations  in  some  pyruvate  metabolism  enzymes  impair  axonal  migration  but  can  also  alter  craniofacial  configuration.  Many  mutations  are  linked  to  selective  neuronal  necrosis  and  apoptosis  and  to  edema  (spongiosis)  of  the  cerebral  white  matter;  paradoxically,  most  cause  enhanced  excitation  and  epilepsy  and  result  in  increased  neuronal  energy  demands.  These  unexpected  manifestations  probably  occur  because  flux  through  energy  metabolism  pathways  sustains  the  synthesis  and  recycling  of  neurotransmitters  and  other  signaling  molecules  by  groups  of  neural  cells.  Consequently,  the  brain  usually  bears  the  full  burden  of  these  diseases,  but  cardiac  and  skeletal  muscles,  liver,  and  kidney  are  also  frequently  involved.