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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.
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.