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Sulfite Oxidase Deficiency Treatment & Management

  • Author: Georgianne L Arnold, MD; Chief Editor: Luis O Rohena, MD  more...
Updated: Oct 13, 2014

Medical Care

No medical treatments that improve neurologic outcome are known, particularly for those with neonatal presentation of sulfite oxidase deficiency. A few patients have shown some clinical benefit from a cysteine-restricted and methionine-restricted diet.

When clinical suggestion of sulfite oxidase deficiency is sufficient, inform caregivers of an extremely poor prognosis for the individual with the disorder. Offer the option of discontinuing life support or abstaining from heroic medical interventions.

Enzymatic proof of diagnosis may take months and may require invasive studies. Therefore, in the acute phase, diagnosis of sulfite oxidase deficiency is generally based on the presence or absence of physical findings and characteristic metabolites.



Involve a metabolic specialist and a neurologist in evaluation and management of individuals with this disorder.



Diets restricted in cysteine and methionine have been used in a few cases of sulfite oxidase deficiency. In these cases, biochemical improvement has been observed, but clinical improvement has been infrequently reported. The value of these diets for individuals who present with mild or late cases of this disorder remains to be studied but may be more effective.

Prospective diet treatment of siblings of known cases has not improved outcome.

Contributor Information and Disclosures

Georgianne L Arnold, MD Faculty, Department of Pediatrics, Divison of Genetics, University of Pittsburgh School of Medicine

Georgianne L Arnold, MD is a member of the following medical societies: American College of Medical Genetics and Genomics, Society for Inherited Metabolic Disorders, Society for the Study of Inborn Errors of Metabolism, American Society of Human Genetics

Disclosure: Received grant/research funds from Biomarin for clinical trial.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Luis O Rohena, MD Chief, Medical Genetics, San Antonio Military Medical Center; Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Assistant Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Additional Contributors

Christian J Renner, MD Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany

Disclosure: Nothing to disclose.

  1. Cho SY, Goh DL, Lau KC, Ong HT, Lam CW. Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency. Clin Chim Acta. 2013 Nov 15. 426:13-7. [Medline].

  2. Johnson-Winters K, Tollin G, Enemark JH. Elucidating the catalytic mechanism of sulfite oxidizing enzymes using structural, spectroscopic, and kinetic analyses. Biochemistry. 2010 Aug 31. 49(34):7242-54. [Medline]. [Full Text].

  3. Westerlinck H, Meylaerts L, Van Hoestenberghe MR, Rossi A. Sulfite oxidase deficiency in a newborn. JBR-BTR. 2014 Mar-Apr. 97(2):113-4. [Medline].

  4. Tan WH, Eichler FS, Hoda S, et al. Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. Pediatrics. 2005 Sep. 116(3):757-66. [Medline].

  5. Bosley TM, Alorainy IA, Oystreck DT, Hellani AM, Seidahmed MZ, Osman Mel F, et al. Neurologic injury in isolated sulfite oxidase deficiency. Can J Neurol Sci. 2014 Jan. 41(1):42-8. [Medline].

  6. Bindu PS, Christopher R, Mahadevan A, Bharath RD. Clinical and imaging observations in isolated sulfite oxidase deficiency. J Child Neurol. 2011 Aug. 26(8):1036-40. [Medline].

  7. Hoffmann C, Ben-Zeev B, Anikster Y, et al. Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency. J Child Neurol. 2007 Oct. 22(10):1214-21. [Medline].

  8. Arnold GL, Greene CL, Stout JP, Goodman SI. Molybdenum cofactor deficiency. J Pediatr. 1993 Oct. 123(4):595-8. [Medline].

  9. Holder JL Jr, Agadi S, Reese W, Rehder C, Quach MM. Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency. JAMA Neurol. 2014 Jun. 71(6):782-4. [Medline].

  10. Johnson JL. Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. Prenat Diagn. 2003 Jan. 23(1):6-8. [Medline].

  11. Johnson JL, Wadman SK. Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. The Metabolic and Molecular Bases of Inherited Disease. 2nd ed. 1995. 2271-86.

  12. Kucukatay V, Savcioglu F, Hacioglu G, et al. Effect of sulfite on cognitive functions in normal and sulfite oxidase deficient rats. Neurotoxicol Teratol. 2005. 27:47-54. [Medline].

  13. Simmonds HA, Hoffmann GF, Perignon JL, et al. Diagnosis of molybdenum cofactor deficiency. Lancet. 1999 Feb 20. 353(9153):675. [Medline].

  14. Waring WS, Maxwell S. Diagnosis of molybdenum cofactor deficiency. Lancet. 1999 Feb 20. 353(9153):675-6. [Medline].

Molybdenum cofactor deficiency.
Sulfite oxidase deficiency and molybdenum cofactor deficiency in the metabolism of sulfated amino acids.
Pictured is an infant with sulfite oxidase deficiency. Note the narrow bifrontal diameter and deep-set eyes.
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