Molecular Genetics and Metabolism 2013-Apr
Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency.
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We report the first case of late-onset isolated sulfite oxidase deficiency (ISOD) presenting with a stroke-like episode. Clinical, biochemical and neuroradiological features at diagnosis and during follow-up after dietary treatment intervention are described. Furthermore, pathogenic mechanisms possibly leading to stroke in ISOD are discussed.