Neonatal presentation of coenzyme Q10 deficiency

被引：104

作者：

Rahman, S

Hargreaves, I

Clayton, P

Heales, S

机构：

[1] Inst Neurol, Dept Clin Biochem, Neurometab Unit, London WC1N 3BG, England

[2] Inst Neurol, Dept Neurochem, London WC1N 3BG, England

[3] Inst Child Hlth, Biochem Endocrinol & Metab Unit, London, England

[4] Natl Hosp, London WC1N 3BG, England

来源：

JOURNAL OF PEDIATRICS | 2001年 / 139卷 / 03期

关键词：

D O I：

10.1067/mpd.2001.117575

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

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页码：456 / 458

页数：3

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