Sulfite Oxidase Deficiency Follow-up

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

Complications

Complications of profound mental retardation may be present in patients with sulfite oxidase deficiency. Problems include abnormal respiratory drive, poor feeding that requires a gastrostomy tube, vomiting, gastroesophageal reflux, and aspiration pneumonia.

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Prognosis

Prognosis is extremely poor for those with neonatal presentation of sulfite oxidase deficiency.

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Patient Education

This disorder is inherited in an autosomal recessive manner. Parents have a 25% recurrence risk for sulfite oxidase deficiency in future children. Encourage genetic counseling and provide information about prenatal diagnosis to parents of individuals with this disorder.

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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].

 
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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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