AUTOSOMAL RECESSIVE LETHAL INFANTILE CYTOCHROME-C-OXIDASE DEFICIENCY
AUTOSOMAL RECESSIVE LETHAL INFANTILE CYTOCHROME-C-OXIDASE DEFICIENCY
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DOI：
10.1001/archpedi.1991.02160060079025
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发表时间：
1991-06-01
影响因子：
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通讯作者：
ALADJEM, M
中科院分区：
文献类型：
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作者：
ESHEL, G;LAHAT, E;ALADJEM, M
三名贝都因儿童因细胞色素c氧化酶缺乏而患有线粒体肌病，表现为进行性肌肉无力、发育不全、近端肾小管酸中毒和乳酸血症导致死亡。其中2人在5个月大时死亡，1人在16个月大时死亡。细胞色素c氧化酶在骨骼肌提取物中均显著降低。同一家庭的另外三个孩子也很可能有相同的代谢异常。我们建议常染色体隐性遗传这种致命的线粒体肌病。
Three bedouin children with mitochondrial myopathy due to cytochrome c oxidase deficiency presented with progressive muscle weakness, failure to thrive, proximal renal tubular acidosis, and lactic acidemia leading to death. Two died by age 5 months and one by age 16 months. Cytochrome c oxidase was markedly reduced in skeletal muscle extracts of all three. Three other children of the same family with most probably the same metabolic aberration are also described. We suggest an autosomal recessive inheritance for this lethal mitochondrial myopathy.