title: Neonatal presentation of coenzyme Q10 deficiency.
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.
authors.affiliation: Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, United Kingdom.
authors.forename: S
authors.initials: S
authors.lastname: Rahman
authors.forename: I
authors.initials: I
authors.lastname: Hargreaves
authors.forename: P
authors.initials: P
authors.lastname: Clayton
authors.forename: S
authors.initials: S
authors.lastname: Heales
mesh_terms: D002851:Chromatography, High Pressure Liquid; D003067:Coenzymes; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000172:deficiency* / Q000627:therapeutic use*
chemical_list: D003067:Coenzymes; D014451:Ubiquinone; C024989:coenzyme Q10