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Isolated sulfite oxidase deficiency: review of two cases in one family.

Publication ,  Journal Article
Edwards, MC; Johnson, JL; Marriage, B; Graf, TN; Coyne, KE; Rajagopalan, KV; MacDonald, IM
Published in: Ophthalmology
October 1999

OBJECTIVE: The authors describe two cases of isolated sulfite oxidase deficiency found in one family. This is a rare autosomal-recessive disorder presenting at birth with seizures, severe neurologic disease, and ectopia lentis. It can be easily missed with metabolic screening; however, the finding of lens subluxation stresses the importance of ophthalmic assessment in making the diagnosis. DESIGN: Two observational case reports. INTERVENTION/METHODS: Ophthalmic assessment, biochemical assay for specific urinary and plasma metabolites, magnetic resonance imaging, and gene sequencing were used to make the diagnosis of the disease in the proband. The diagnosis was subsequently recognized in a previously affected sibling after the postmortem neuropathology was reviewed. Mutation analysis was performed on cultured fibroblasts from the proband to identify and categorize the specific mutation responsible for the disease in the family. From this, future prenatal detection of sulfite oxidase deficiency is possible. MAIN OUTCOME MEASURES: The diagnosis of sulfite oxidase deficiency was established in this family, enabling appropriate genetic counseling and recurrence risk estimation. RESULTS: Point mutations were found in both alleles of the sulfite oxidase gene in the proband. The first is a 623C-->A mutation, which predicts an A208D substitution, and the second is a 1109C-->A, which predicts an S370Y substitution. Both residues A208D and S370Y are critical for sulfite oxidase activity. CONCLUSIONS: Isolated sulfite oxidase deficiency is a rare heritable disease for which mutation analysis can allow accurate prenatal screening. It often is difficult to diagnose by clinical presentation alone, but the critical finding of lens subluxation accompanying seizures and diffuse neurologic disease in an infant should alert the physician to the diagnosis.

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Published In

Ophthalmology

DOI

ISSN

0161-6420

Publication Date

October 1999

Volume

106

Issue

10

Start / End Page

1957 / 1961

Location

United States

Related Subject Headings

  • Seizures
  • Point Mutation
  • Pedigree
  • Oxidoreductases Acting on Sulfur Group Donors
  • Ophthalmology & Optometry
  • Nervous System Diseases
  • Metabolism, Inborn Errors
  • Male
  • Magnetic Resonance Imaging
  • Lens Subluxation
 

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Edwards, M. C., Johnson, J. L., Marriage, B., Graf, T. N., Coyne, K. E., Rajagopalan, K. V., & MacDonald, I. M. (1999). Isolated sulfite oxidase deficiency: review of two cases in one family. Ophthalmology, 106(10), 1957–1961. https://doi.org/10.1016/S0161-6420(99)90408-6
Edwards, M. C., J. L. Johnson, B. Marriage, T. N. Graf, K. E. Coyne, K. V. Rajagopalan, and I. M. MacDonald. “Isolated sulfite oxidase deficiency: review of two cases in one family.Ophthalmology 106, no. 10 (October 1999): 1957–61. https://doi.org/10.1016/S0161-6420(99)90408-6.
Edwards MC, Johnson JL, Marriage B, Graf TN, Coyne KE, Rajagopalan KV, et al. Isolated sulfite oxidase deficiency: review of two cases in one family. Ophthalmology. 1999 Oct;106(10):1957–61.
Edwards, M. C., et al. “Isolated sulfite oxidase deficiency: review of two cases in one family.Ophthalmology, vol. 106, no. 10, Oct. 1999, pp. 1957–61. Pubmed, doi:10.1016/S0161-6420(99)90408-6.
Edwards MC, Johnson JL, Marriage B, Graf TN, Coyne KE, Rajagopalan KV, MacDonald IM. Isolated sulfite oxidase deficiency: review of two cases in one family. Ophthalmology. 1999 Oct;106(10):1957–1961.
Journal cover image

Published In

Ophthalmology

DOI

ISSN

0161-6420

Publication Date

October 1999

Volume

106

Issue

10

Start / End Page

1957 / 1961

Location

United States

Related Subject Headings

  • Seizures
  • Point Mutation
  • Pedigree
  • Oxidoreductases Acting on Sulfur Group Donors
  • Ophthalmology & Optometry
  • Nervous System Diseases
  • Metabolism, Inborn Errors
  • Male
  • Magnetic Resonance Imaging
  • Lens Subluxation