TY  - CHAP
M1  - Book, Section
TI  - Energy Metabolism Disorders
A1  - Hay, Jr, William W.
A1  - Levin, Myron J.
A1  - Deterding, Robin R.
A1  - Abzug, Mark J.
Y1  - 2017
N1  - 
T2  - Quick Medical Diagnosis & Treatment Pediatrics
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  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1145455245
ER  -