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Neuropediatrics 1996; 27(6): 299-304
DOI: 10.1055/s-2007-973798
Original Articles

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Isolated Sulfite Oxidase Deficiency

C. A. Rupar1 , 2 , 3 , J. Gillett1 , 3 , B. A. Gordon1 , 2 , 3 , D. A. Ramsay4 , J. L. Johnson5 , R. M. Garrett5 , K. V. Rajagopalan3 , J. H. Jung3 , G. S. Bacheyie3 , A. R. Sellers6
  • 1CPRI, The University of Western Ontario, London, ON, Canada
  • 2Departments of Biochemistry, The University of Western Ontario, London, ON, Canada
  • 3Departments of Paediatrics, The University of Western Ontario, London, ON, Canada
  • 4Departments of Pathology, The University of Western Ontario, London, ON, Canada,
  • 5Department of Biochemistry, Duke University Medical Center, Durham, NC, USA,
  • 6Department of Pathology, Hotel Dieu of St. Joseph Hospital, Windsor, ON, Canada
Further Information

Publication History

Publication Date:
13 March 2007 (online)

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Abstract

Isolated sulfite oxidase (SO) deficiency is an autosomal recessively inherited inborn error of sulfur metabolism. In this report of a ninth patient the clinical history, laboratory results, neuropathological findings and a mutation in the sulfite oxidase gene are described. The data from this patient and previously published patients with isolated sulfite oxidase deficiency and molybdenum cofactor deficiency are summarized to characterize this rare disorder. The patient presented neonatally with intractable seizures and did not progress developmentally beyond the neonatal stage. Dislocated lenses were apparent at 2 months. There was increased urine excretion of sulfite and S-sulfocysteine and a decreased concentration of plasma cystine. A lactic acidemia was present for 6 months. Liver sulfite oxidase activity was not detectable but xanthine dehydrogenase activity was normal. The boy died of respiratory failure at 32 months. Neuropathological findings of cortical necrosis and extensive cavitating leukoencephalopathy were reminiscent of those seen in severe perinatal asphyxia suggesting an etiology of energy deficiency. A point mutation that resulted in a truncated protein missing the molybdenum-binding site has been identified.

Key words

Isolated sulfite oxidase deficiency

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