Sulfite Oxidase Deficiency Treatment & Management

  • Author: Georgianne L Arnold, MD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Mar 1, 2012
 

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.

Next

Consultations

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

Previous
Next

Diet

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.

Previous
Proceed to Medication
 
 
Contributor Information and Disclosures
Author

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, American Society of Human Genetics, Society for Inherited Metabolic Disorders, and Society for the Study of Inborn Errors of Metabolism

Disclosure: Biomarin Grant/research funds clinical trial

Specialty Editor Board

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

Disclosure: Nothing to disclose.

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.

Robert Anthony Saul, MD  Clinical Professor, Department of Pediatrics, University of South Carolina School of Medicine; Senior Clinical Geneticist, Greenwood Genetic Center

Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

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

  2. 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. Sep 2005;116(3):757-66. [Medline].

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

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

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

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

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

  8. 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].

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

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

 
Previous
Next
 
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.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.