RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Marciniak, Bruno
A1 Dalens, Bernard J.
SR Print(0)
ID 58067187
T1 Complex IV 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=58067187
RD 2024/04/18
AB Complex  IV  deficiency,  also  known  as  cytochrome  c  oxidase  (COX)  deficiency,  is  a  very  rare  inherited  metabolic  disorder  characterized  by  the  absence  of  this  enzyme.  Several  medical  conditions  have  been  associated  with  the  cytochrome  c  oxidase  deficiency  (see  Table  C-2).  Clinical  features  vary  according  to  the  type  of  skeletal  muscles  affected  by  the  COX  deficiency.  Two  major  forms  exist  and  are  determined  by  the  organ  involvement:  encephalopathic  or  myopathic.  Affected  infants  with  the  benign  infantile  mitochondrial  myopathy  present  similar  clinical  features  than  infants  affected  with  the  more  severe  infantile  form  of  the  disease,  without  either  cardiac  (hypertrophic  cardiomyopathy)  or  kidney  dysfunction.  In  Leigh's  Disease  (Subacute  Necrotizing  Encephalomyelopathy),  a  progressive  degeneration  of  the  brain  is  associated  with  significant  dysfunction  of  the  heart,  kidneys,  skeletal  muscles,  and  the  liver.  The  COX  Deficiency  French-Canadian  Type  affects  skeletal  muscles,  connective  tissue,  and  the  liver.  As  observed  in  Leigh's  Disease,  the  brain  can  be  involved  in  this  form  of  COX  deficiency.  Renal  Fanconi  Syndrome  can  be  the  first  manisfestation  of  Complex  IV  deficiency  (intermittent  lactic  acidosis).  Complex  IV  is  the  terminal  enzyme  of  the  respiratory  chain  and  consists  of  13  polypeptide  subunits.  Three  of  these  proteins  are  encoded  by  the  mitochondrial  DNA  and  the  responsible  catalytic  subunits  that  carry  out  the  electron  transport  function.