RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Marciniak, Bruno
A1 Dalens, Bernard J.
SR Print(0)
ID 58062347
T1 Alpha-Ketoglutarate Dehydrogenase Deficiency
T2 Syndromes: Rapid Recognition and Perioperative Implications
YR 2006
FD 2006
PB The McGraw-Hill Companies
PP New York, NY
SN 9780071354554
LK accessanesthesiology.mhmedical.com/content.aspx?aid=58062347
RD 2024/04/19
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.