脂肪酸氧化障碍伴继发性线粒体能量产生缺陷：一例报告
Fatty Acid oxidation disorder with secondary mitochondrial energy production defect: a case report.
作者信息
Sindgikar Seema Pavaman, Veetil Deepthi Raran, Shenoy Rathika D, Shenoy Vijaya
机构信息
Department of Pediatrics, K. S. Hegde Medical Academy, NITTE University, Derlakatte, Mangalore, 575018 Karnataka India.
出版信息
Indian J Clin Biochem. 2014 Oct;29(4):514-6. doi: 10.1007/s12291-013-0391-3. Epub 2013 Oct 4.
Abstract
The presentation of long-chain fatty acid oxidation disorders (FAOD), unlike short and medium-chain disorders can be with secondary defects in mitochondrial function along with typical features of FAOD. We report an infant with Reye-like presentation and acylcarnitine profile suggestive of very-long-chain acyl-CoA dehydrogenase deficiency who had lactic acidosis and urine gas chromatographic pattern of mitochondrial defects.
摘要
与短链和中链脂肪酸氧化障碍不同，长链脂肪酸氧化障碍（FAOD）的表现可能伴有线粒体功能的继发性缺陷以及FAOD的典型特征。我们报告了一名具有类瑞氏综合征表现且酰基肉碱谱提示极长链酰基辅酶A脱氢酶缺乏的婴儿，该婴儿患有乳酸性酸中毒以及线粒体缺陷的尿液气相色谱图谱。
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