Isolated Sulfite Oxidase Deficiency: A Case Report With a Novel Mutation and Review of the Literature

@article{Tan2005IsolatedSO,
  title={Isolated Sulfite Oxidase Deficiency: A Case Report With a Novel Mutation and Review of the Literature},
  author={W. Tan and F. Eichler and S. Hoda and Melissa S Lee and H. Baris and C. Hanley and P. Grant and K. Krishnamoorthy and V. Shih},
  journal={Pediatrics},
  year={2005},
  volume={116},
  pages={757 - 766}
}
Isolated sulfite oxidase deficiency is a rare but devastating neurologic disease that usually presents in early infancy with seizures and alterations in muscle tone. Only 21 cases have been reported in the literature. We report a case of a newborn infant boy with isolated sulfite oxidase deficiency who presented with generalized seizures on his fourth day of life. Plasma total homocysteine was not detectable. Urinary sulfite, thiosulfate, and S-sulfocysteine levels were elevated. The patient… Expand
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