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Isolated sulfite oxidase deficiency.

Publication ,  Journal Article
Rupar, CA; Gillett, J; Gordon, BA; Ramsay, DA; Johnson, JL; Garrett, RM; Rajagopalan, KV; Jung, JH; Bacheyie, GS; Sellers, AR
Published in: Neuropediatrics
December 1996

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.

Duke Scholars

Published In

Neuropediatrics

DOI

ISSN

0174-304X

Publication Date

December 1996

Volume

27

Issue

6

Start / End Page

299 / 304

Location

Germany

Related Subject Headings

  • Sulfur
  • Oxidoreductases Acting on Sulfur Group Donors
  • Neurology & Neurosurgery
  • Molecular Sequence Data
  • Metabolic Diseases
  • Male
  • Magnetic Resonance Imaging
  • Infant
  • Humans
  • Fatal Outcome
 

Citation

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Rupar, C. A., Gillett, J., Gordon, B. A., Ramsay, D. A., Johnson, J. L., Garrett, R. M., … Sellers, A. R. (1996). Isolated sulfite oxidase deficiency. Neuropediatrics, 27(6), 299–304. https://doi.org/10.1055/s-2007-973798
Rupar, C. A., J. Gillett, B. A. Gordon, D. A. Ramsay, J. L. Johnson, R. M. Garrett, K. V. Rajagopalan, J. H. Jung, G. S. Bacheyie, and A. R. Sellers. “Isolated sulfite oxidase deficiency.Neuropediatrics 27, no. 6 (December 1996): 299–304. https://doi.org/10.1055/s-2007-973798.
Rupar CA, Gillett J, Gordon BA, Ramsay DA, Johnson JL, Garrett RM, et al. Isolated sulfite oxidase deficiency. Neuropediatrics. 1996 Dec;27(6):299–304.
Rupar, C. A., et al. “Isolated sulfite oxidase deficiency.Neuropediatrics, vol. 27, no. 6, Dec. 1996, pp. 299–304. Pubmed, doi:10.1055/s-2007-973798.
Rupar CA, Gillett J, Gordon BA, Ramsay DA, Johnson JL, Garrett RM, Rajagopalan KV, Jung JH, Bacheyie GS, Sellers AR. Isolated sulfite oxidase deficiency. Neuropediatrics. 1996 Dec;27(6):299–304.
Journal cover image

Published In

Neuropediatrics

DOI

ISSN

0174-304X

Publication Date

December 1996

Volume

27

Issue

6

Start / End Page

299 / 304

Location

Germany

Related Subject Headings

  • Sulfur
  • Oxidoreductases Acting on Sulfur Group Donors
  • Neurology & Neurosurgery
  • Molecular Sequence Data
  • Metabolic Diseases
  • Male
  • Magnetic Resonance Imaging
  • Infant
  • Humans
  • Fatal Outcome