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Neonatal presentation of coenzyme Q10 deficiency
S Rahman1, I Hargreaves, P Clayton
1Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, United Kingdom.
The Journal of Pediatrics
|September 20, 2001
Abstract:
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.