RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164074058
T1 Isovaleric Acidemia
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=1164074058
RD 2024/09/19
AB Genetic  disorder  affecting  the  branched-chain  organic  acids,  the  most  frequent  of  the  leucine  metabolism  disorders.  It  is  a  classical  type  of  organic  academia.  In  50%  of  cases,  the  onset  of  the  disease  becomes  apparent  within  a  few  days  after  birth.  This  inborn  error  of  metabolism  leads  to  body  accumulation  of  isovaleric  acid  (and  its  metabolites)  resulting  in  vomiting,  dehydration,  severe  metabolic  acidosis,  and  neurologic  manifestations.  A  characteristic  feature  of  isovaleric  acidemia  is  a  very  distinctive  and  strong  odor  of  sweaty  feet.  This  odor  results  from  accumulation  of  the  compound  isovaleric  acid.