A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation


Olgac A., Oztoprak U., Kasapkara C. S. , Kilic M., Yuksel D., Derinkuyu E. B. , ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.33, ss.165-170, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 33 Konu: 1
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1515/jpem-2019-0245
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.165-170

Özet

Background: Coenzyme Q10 (CoQ10) serves as a shuttle for electrons from complexes I and II to complex III in the respiratory chain, and has important functions within the mitochondria. Primary CoQ10 deficiency is a mitochondrial disorder which has devastating effects, and which may be partially treated with exogenous CoQ10 supplementation.