呼吸链复合物III缺乏伴瘙痒：一种新型的维生素反应性临床特征。 （注：原文中“[correction of complex]”表述不太清晰准确，可能存在信息误差，但按照要求翻译如上。 ）
Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature.
作者信息
Mowat D, Kirby D M, Kamath K R, Kan A, Thorburn D R, Christodoulou J
机构信息
Western Sydney Genetics Program, Department of Gastroenterology, Royal Alexandra Hospital for Children, Westmead, NSW, Australia.
出版信息
J Pediatr. 1999 Mar;134(3):352-4. doi: 10.1016/s0022-3476(99)70463-4.
We report a child with an isolated complex III respiratory chain deficiency and global developmental delay who had severe pruritus with elevated plasma bile acid levels. A liver biopsy showed micronodular cirrhosis, and enzymologic evaluation demonstrated an isolated complex III deficiency in both liver and muscle. His pruritus improved and serum bile acid levels decreased after treatment with menadione and vitamin C.
我们报告了一名患有孤立性细胞色素c氧化酶缺乏症和全面发育迟缓的儿童，该患儿伴有严重瘙痒且血浆胆汁酸水平升高。肝脏活检显示为小结节性肝硬化，酶学评估表明肝脏和肌肉均存在孤立性细胞色素c氧化酶缺乏。在接受甲萘醌和维生素C治疗后，他的瘙痒症状有所改善，血清胆汁酸水平也有所下降。
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