RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164060599
T1 Acyl-CoA Dehydrogenase Deficiency Syndromes
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=1164060599
RD 2024/04/19
AB Acylated  coenzyme  A  (Acyl-CoA)  dehydrogenases  are  a  large  family  of  mitochondrial  flavoproteins  that  catalyze  α,β-dehydrogenation  of  Acyl-CoA  esters  in  the  mitochondrial  matrix.  Fatty  acids  are  an  essential  energy  substrate  for  a  number  of  tissues,  including  heart,  brain,  skeletal  muscles,  pancreas,  kidney,  liver,  brown  adipose  tissue,  and  placenta.  The  different  disorders  are  inherited  as  an  autosomal  recessive  trait.  Acyl-CoA  dehydrogenase  deficiency  syndromes  in  general  are  a  potentially  very  serious  group  of  diseases.  In  one  case  series  with  a  total  of  154  patients,  only  one-third  was  still  alive  at  the  time  of  publication,  one-third  died  within  the  first  week  and  two-thirds  within  the  first  year  of  life.  In  more  than  40%  of  affected  families,  there  was  at  least  one  death  in  the  sibship.  Hepatic  symptoms  (steatosis,  hypoketotic  hypoglycemia,  hepatomegaly,  ☞Reye  Syndrome-like  symptoms)  were  observed  in  73%  of  patients,  while  true  hepatic  failure  occurred  in  10%  of  patients.  Cardiac  anomalies  were  found  in  51%  of  patients  (67%  of  them  with  [mainly  hypokinetic  and  hypertrophic]  cardiomyopathy  and  47%  with  arrhythmias)  causing  collapse,  near-missed,  or  sudden  unexpected  death.  Renal  symptoms  (tubulopathy)  and  transient  renal  failure  were  present  in  27%  of  patients.  It  is  important  to  recognize  that  although  hypoglycemia  is  often  present  during  metabolic  decompensations,  it  is  a  late  sign  and  neither  suitable  to  monitor  the  severity  of  the  illness  nor  to  direct  treatment.  In  many  countries,  screening  for  Acyl-CoA  dehydrogenase  deficiency  syndromes  is  now  part  of  the  regular  newborn  workup  and  identified  patients  have  generally  remained  healthy  due  to  proactive  measures  when  prolonged  fasting  is  expected  or  intercurrent  illness  occurs.  However,  it  is  possible  that  serious  symptoms  already  occur  in  the  first  days  of  life,  ie,  before  the  screening  results  are  known.