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

Eroglu, Fehime; ÖZALTIN, FATİH; Gonc, Nazl; Nalçacıoğlu, Hülya; ÖZÇAKAR, ZEYNEP; YALNIZOĞLU, DİLEK; Gucer, Safak; ORHAN, DİCLEHAN; EMİNOĞLU, FATMA; GÖÇMEN, RAHŞAN; Alikasifoglu, Ayfer; Topaloglu, Rezan; DÜZOVA, ALİ

doi:10.1016/j.pediatrneurol.2018.07.008

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., ...Daha Fazla

PEDIATRIC NEUROLOGY, cilt.88, ss.71-74, 2018 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 88
Basım Tarihi: 2018
Doi Numarası: 10.1016/j.pediatrneurol.2018.07.008
Dergi Adı: PEDIATRIC NEUROLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.71-74
Anahtar Kelimeler: Mitochondrial disease, COQ2 gene, CoQ10 deficiency, Coenzyme Q10, Respiratory chain disorders, CoQ10 supplementation, Ubiquinone, Neonatal diabetes, PLASMA
Ondokuz Mayıs Üniversitesi Adresli: Hayır

Özet

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.