Neonatal presentation of coenzyme Q10 deficiency

S Rahman, I Hargreaves, P Clayton, S Heales - The Journal of pediatrics, 2001 - Elsevier
S Rahman, I Hargreaves, P Clayton, S Heales
The Journal of pediatrics, 2001Elsevier
We report a neonate with ubiquinone deficiency. Skeletal muscle analysis revealed
markedly diminished mitochondrial complex II+ III activity that could be restored by addition
of a ubiquinone analogue. Ubiquinone deficiency was confirmed by high-performance liquid
chromatography. Oral ubiquinone therapy was not associated with clinical improvement; the
patient died at 2 years.(J Pediatr 2001; 139: 456-8)
We report a neonate with ubiquinone deficiency. Skeletal muscle analysis revealed markedly diminished mitochondrial complex II + III activity that could be restored by addition of a ubiquinone analogue. Ubiquinone deficiency was confirmed by high-performance liquid chromatography. Oral ubiquinone therapy was not associated with clinical improvement; the patient died at 2 years. (J Pediatr 2001;139:456-8)
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