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Isolated sulfite oxidase deficiency

C A Rupar¹, J Gillett, B A Gordon

¹CPRI, University of Western Ontario, London, Canada.

Neuropediatrics

|December 1, 1996

Summary

Isolated sulfite oxidase deficiency is a rare inherited metabolic disorder. A ninth patient presented with severe neurological issues and a mutation causing a truncated enzyme, highlighting the critical role of sulfite oxidase.

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Area of Science:

Biochemistry
Genetics
Neurology

Background:

Isolated sulfite oxidase (SO) deficiency is an autosomal recessive inborn error of sulfur metabolism.
It is a rare disorder characterized by severe neurological impairment.
Molybdenum cofactor deficiency shares some clinical and biochemical features.