Article
A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.
Journal of pediatric endocrinology & metabolism : JPEM - 28 Jan 2020
Olgac Asburce, Öztoprak Ülkühan, Kasapkara Çiğdem Seher, Kılıç Mustafa, Yüksel Deniz, Derinkuyu Emine Betül, Taşçı Yıldız Yasemin, Ceylaner Serdar, Ezgu Fatih Süheyl
Abstract excerpt
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. Case presentation A 9-month-old girl patient was referred to our clinic due...
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