Key result
An infant who died with severe neurological abnormalities and dislocated ocular lenses was found to specifically lack sulfite oxidase activity in his liver, brain, and kidney.
Case Report (n=1)
This report provides the first description of sulfite oxidase deficiency in humans, linking it to severe neurological abnormalities and dislocated ocular lenses.
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Alerts clinicians to sulfite oxidase deficiency in infants with neurological abnormalities and lens dislocation; leaves open its prevalence, genetics, and management.
An infant who died with neurological abnormalities, mental retardation, and dislocated ocular lenses excreted in his urine abnormally large amounts of S-sulfo-L-cysteine, sulfite, and thiosulfate and virtulally no inorganic sutlfate. The present report establishes the occurrence of an ezymatic defect in this infant. His liver, brain, and kidney specifically lacked sulfite oxidase activity. Deficiency of sulfite oxidase, which has not apparently been described in man, provides a reasonable explanation for the abnormalities in this infant.
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Mudd et al. (1967) conducted a case report in Sulfite oxidase deficiency (n=1). Sulfite oxidase deficiency was evaluated on Sulfite oxidase activity in liver, brain, and kidney. An infant who died with severe neurological abnormalities and dislocated ocular lenses was found to specifically lack sulfite oxidase activity in his liver, brain, and kidney.
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