Isolated Sulfite Oxidase Deficiency in the Newborn: Lactic Acidaemia and Leukoencephalopathy

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.

Key words

Leukoencephalopathy - lactic acidaemia - sulfite oxidase deficiency - total homocysteine - plasma cystine - SUOX gene

References

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