TY  - CHAP
M1  - Book, Section
TI  - Complex II Deficiency
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Engelhardt, Thomas
PY  - 2019
T2  - Syndromes: Rapid Recognition and Perioperative Implications, 2e
AB  - Complex  II  Disease  is  caused  by  mutations  in  nuclear  DNA.  These  mutations  are  defined  as  a  “direct  hit”  to  the  genes  that  encode  subunits  of  respiratory  chains  complexes.  They  affect  the  enzyme  Succinate  dehydrogenase,  which  is  responsible  for  the  transfer  of  electrons  by  reduction  of  succinate  to  fumarate  in  the  electron  chain  pathway  (see  Table  C-1).  Deficiency  of  Complex  II  is  characterized  by  highly  variable  phenotypic  expression.  The  clinical  features  include  encephalomyopathy,  failure  to  thrive,  severe  developmental  delay,  muscle  hypotonia,  lethargy,  respiratory  failure,  ataxia,  and  myoclonic  seizures.  Lactic  acidosis  is  common.  The  most  frequent  clinical  condition  is  ☞Leigh  Syndrome.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessanesthesiology.mhmedical.com/content.aspx?aid=1164066349
ER  -