RT Book, Section
A1 Rötig, Agnès
A1 Munnich, Arnold
A2 Valle, David L.
A2 Antonarakis, Stylianos
A2 Ballabio, Andrea
A2 Beaudet, Arthur L.
A2 Mitchell, Grant A.
SR Print(0)
ID 1181458349
T1 Mitochondrial Coenzyme Q biosynthesis disorders human
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1181458349
RD 2024/09/16
AB Coenzyme  Q10  (CoQ10)  plays  a  pivotal  role  in  oxidative  phosphorylation  (OXPHOS)  as  it  distributes  electrons  between  the  various  dehydrogenases  and  the  cytochrome  segments  of  the  respiratory  chain.  Primary  coenzyme  Q10  deficiency  is  a  rare,  but  possibly  treatable,  autosomal  recessive  condition  with  four  major  clinical  presentations,  an  encephalomyopathic  form,  a  generalized  infantile  variant  with  severe  encephalopathy  and  renal  disease,  a  myopathic  form  and  an  ataxic  form.  The  diagnosis  of  ubiquinone  deficiency  is  supported  by  respiratory  chain  analysis  and  eventually  by  the  quantification  of  CoQ10  in  patient  tissues.  We  review  here  the  quinone  deficiency  diseases  as  well  as  the  clinical  improvement  after  oral  CoQ10  therapy.  The  clinical  heterogeneity  of  ubiquinone  deficiency  is  suggestive  of  a  genetic  heterogeneity  that  should  be  related  to  the  large  number  of  enzymes,  and  corresponding  genes,  involved  in  ubiquinone  biosynthesis.