RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164082968
T1 Pyruvate Carboxylase Deficiency
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164082968
RD 2024/04/23
AB Rare  mitochondrial  disease  leading  to  hypoglycemia  and  severe  lactic  acidosis.  Clinically  characterized  by  seizures,  neuromuscular  incoordination,  abnormal  eye  movements,  and  poor  response  to  visual  stimuli.  Other  clinical  features  include  lethargy,  vomiting,  and  poor  feeding.  Apnea,  dyspnea  and/or  respiratory  depression  complete  the  presentation.