RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Marciniak, Bruno
A1 Dalens, Bernard J.
SR Print(0)
ID 58076866
T1 Multiple Carboxylase 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=58076866
RD 2024/04/19
AB Inborn  error  of  metabolism  present  in  the  neonatal  period  and  characterized  by  tachypnea  or  Kussmaul  breathing,  hypotonia,  and  seizures.  Severe  metabolic  acidosis  with  ketosis  and  hyperammonemia.  If  present  during  infancy  and  childhood,  lethargy,  hypotonia,  seizures  ataxia;  apnea/hyperventilation,  and  frequent  stridor  are  characteristic.  Usually  corrected  with  oral  biotin.