IV型糖原贮积病中的二羧酸尿症和继发性肉碱缺乏症。
Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV.
作者信息
Maaswinkel-Mooy P D, Poorthuis B J, van Gelderen H H, van de Kamp J J
机构信息
Department of Paediatrics, University Hospital, Leiden, The Netherlands.
出版信息
Arch Dis Child. 1987 Oct;62(10):1066-7. doi: 10.1136/adc.62.10.1066.
Abstract
A 3 year old boy developed an unusually mild form of glycogen storage disease type IV. Metabolic investigations showed severe abnormalities of fatty acid and carnitine metabolism. A muscle carnitine deficiency was found. Treatment with L-carnitine orally led to a notable improvement in muscle strength.
摘要
一名3岁男孩患有一种异常轻微的IV型糖原贮积病。代谢研究显示脂肪酸和肉碱代谢存在严重异常。发现肌肉肉碱缺乏。口服L-肉碱治疗使肌肉力量有显著改善。
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本文引用的文献
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