RT Book, Section
A1 Hay, Jr, William W.
A1 Levin, Myron J.
A1 Deterding, Robin R.
A1 Abzug, Mark J.
SR Print(0)
ID 1145455245
T1 Energy Metabolism Disorders
T2 Quick Medical Diagnosis & Treatment Pediatrics
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9781264257614
LK accesspediatrics.mhmedical.com/content.aspx?aid=1145455245
RD 2024/09/20
AB Most  common  disorders  of  central  mitochondrial  energy  metabolism  are  pyruvate  dehydrogenase  deficiency  and  deficiencies  of  respiratory  chain  componentsIn  pyruvate  dehydrogenase  deficiency,  the  lactate-pyruvate  ratio  is  normalIn  respiratory  chain  disorders  the  lactate-pyruvate  ratio  is  often  increasedRespiratory  chain  disordersCommon  (1:5000)Involve  a  heterogenous  group  of  genetic  defects  that  produce  a  variety  of  clinical  syndromes  (now  >  50)  of  varying  severity  and  presentationCommon  causes  of  static,  progressive,  or  self-limited  neurodevelopmental  problems  in  children