TY  - CHAP
M1  - Book, Section
TI  - Alpha-Ketoglutarate Dehydrogenase Deficiency
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Marciniak, Bruno
A1  - Dalens, Bernard J.
PY  - 2006
T2  - Syndromes: Rapid Recognition and Perioperative Implications
AB  - Characterized  by  hypotonia,  metabolic  acidosis,  and  hyperlactatemia  immediately  after  birth.  The  life  expectancy  is  limited  to  about  30  months  of  age.  Death  is  caused  by  neurologic  deterioration.  Other  clinical  features  include  axial  hypotonia  with  no  head  control  until  late  in  childhood.  Metabolic  acidosis  with  acute  episodes  of  acidotic  decompensation  and  sometimes  hypoglycemia  may  occur  during  infections.  Low  plasmatic  molar  ratios  of  ketone  bodies  in  neonate  with  congenital  lactic  acidosis  have  been  suggested  as  an  indicator  of  dysfunction  of  the  tricarboxylic  acid  cycle.  
SN  - 
PB  - The McGraw-Hill Companies
CY  - New York, NY
Y2  - 2024/04/20
UR  - accessanesthesiology.mhmedical.com/content.aspx?aid=58062347
ER  -