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Case Reports
Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy.
- S N Basheer, P J Waters, C W Lam, C Acquaviva-Bourdain, G Hendson, K Poskitt, and J Hukin.
- Division of Neurology, British Columbia's Children's Hospital, Vancouver, Canada. sn.basheer@hey.nhs.uk
- Neuropediatrics. 2007 Feb 1; 38 (1): 38-41.
AbstractWe 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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