Neonatal presentation of coenzyme Q10 deficiency.
case_report · Level V
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- Record sourced from PubMed, PMID 11562630.
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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.
Medical subject headings
- Ubiquinone