Neonatal presentation of coenzyme Q10 deficiency.
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.
Rahman
S
S
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, United Kingdom.
Hargreaves
I
I
Clayton
P
P
Heales
S
S
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*
D003067:Coenzymes; D014451:Ubiquinone; C024989:coenzyme Q10