新生儿孤立性亚硫酸盐氧化酶缺乏症：乳酸性酸中毒和白质脑病。
Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy.
作者信息
Basheer S N, Waters P J, Lam C W, Acquaviva-Bourdain C, Hendson G, Poskitt K, Hukin J
机构信息
Division of Neurology, British Columbia's Children's Hospital, Vancouver, Canada.
出版信息
Neuropediatrics. 2007 Feb;38(1):38-41. doi: 10.1055/s-2007-981484.
PMID:17607604
Abstract
We report a newborn with progressive leukoencephalopathy and lactic acidaemia, diagnosed with isolated sulfite oxidase deficiency. We show that low plasma total homocysteine (PTHcy) is a valuable early indicator of sulfite oxidase dysfunction, providing a crucial first-line screen, whereas plasma cystine is not always informative in the first few days of life.
摘要
我们报告了一名患有进行性白质脑病和乳酸性酸中毒的新生儿，经诊断为孤立性亚硫酸盐氧化酶缺乏症。我们发现，血浆总同型半胱氨酸水平低（PTHcy）是亚硫酸盐氧化酶功能障碍的一个有价值的早期指标，可提供关键的一线筛查，而血浆胱氨酸在出生后的头几天并不总是能提供有用信息。
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