期刊
NEUROPEDIATRICS
卷 38, 期 1, 页码 38-41出版社
GEORG THIEME VERLAG KG
DOI: 10.1055/s-2007-981484
关键词
leukoencephalopathy; lactic acidaemia; sulfite oxiclase deficiency; total homocysteine; plasma cystine; SUOX gene
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.
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