Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation

Eroglu F. K., ÖZALTIN F., Gonc N., Nalçacıoğlu H., ÖZÇAKAR Z. B., YALNIZOĞLU D., ...More

PEDIATRIC NEUROLOGY, vol.88, pp.71-74, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 88
  • Publication Date: 2018
  • Doi Number: 10.1016/j.pediatrneurol.2018.07.008
  • Journal Name: PEDIATRIC NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.71-74
  • Keywords: Mitochondrial disease, COQ2 gene, CoQ10 deficiency, Coenzyme Q10, Respiratory chain disorders, CoQ10 supplementation, Ubiquinone, Neonatal diabetes, PLASMA
  • Ondokuz Mayıs University Affiliated: No

Abstract

BACKGROUND: COQ2 mutations cause a rare infantile multisystemic disease with heterogeneous clinical features. Promising results have been reported in response to Coenzyme Q10 treatment, especially for kidney involvement, but little is known about the long-term outcomes.