Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature
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 began a low-methionine and low-cysteine diet and was treated …
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 began a low-methionine and low-cysteine diet and was treated …