RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164078957
T1 Mitochondrial Acetoacetyl-CoA Thiolase (ACAT) Deficiency
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=1164078957
RD 2024/04/19
AB It  is  an  inherited  mitochondrial  disease  (inborn  error  of  metabolism)  affecting  the  isoleucine  catabolism  resulting  in  recurrent  episodes  of  ketoacidosis.  This  medical  condition  belongs  to  a  spectrum  of  disease  called  organic  acidemias.  Clinically,  it  is  associated  with  severe  ketosis,  acidosis,  hypoglycemia,  causing  severe  vomiting,  poor  feeding,  seizures,  muscular  hypotonia,  lethargy  leading  progressively  to  coma  as  a  result  of  toxic  encephalopathy.  The  onset  of  the  disease  is  at  birth  and  if  the  diagnosis  is  made  in  the  first  10  days  of  life,  there  is  potential  for  good  outcome.