RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164077714
T1 Maple Syrup Urine Disease (MSUD)
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accessanesthesiology.mhmedical.com/content.aspx?aid=1164077714
RD 2024/04/23
AB It  is  an  inherited  inborn  error  of  metabolism  caused  by  a  complex  enzymatic  deficiency  of  branched-chain  α-ketoacid  dehydrogenase  leading  to  the  production  of  urine  and  sweat  that  smell  like  maple  syrup.  Clinical  features  include  lethargy,  hypotonia,  seizures,  bulging  fontanelles,  and  progressive  neurologic  deterioration.  Severe  metabolic  acidosis  is  the  cause  of  death  in  the  newborn.