Sulfite Oxidase Deficiency Clinical Presentation

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

History

Pregnancy and delivery history are typically normal, although numerous infants with sulfite oxidase deficiency have had depressed Apgar scores.

The "classic presentation" includes intractable seizures in the first days or weeks of life and abnormal tone (particularly opithistonus). Feeding difficulties are common shortly after birth. Most individuals have profound mental retardation.

Later or milder presentations of sulfite oxidase deficiency are being reported with increasing frequency. These presentations include neurologic regression with loss of previously acquired milestones or movement disorders. A review of 22 cases of isolated sulfite oxidase deficiency noted that age of onset was after the first month of life in 9 cases (10 wk to 15 mo) and that the oldest onset cases were more likely to have mild or no developmental delays; in some cases, movement or tone abnormalities were presenting symptoms instead of seizures.[2]

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Physical

Birth weight, height, and head circumference are usually normal in individuals with sulfite oxidase deficiency. Microcephaly may develop in infancy.

Neurologic examination may note the following:

  • Axial hypotonia with peripheral hypertonia
  • Intractable tonic/clonic seizures
  • Myoclonus
  • Opisthotonus
  • Movement disorder
  • Hyperekplexia

The following characteristic craniofacial anomalies may be observed (see the image below):

Pictured is an infant with sulfite oxidase deficiePictured is an infant with sulfite oxidase deficiency. Note the narrow bifrontal diameter and deep-set eyes.
  • Narrow bifrontal diameter
  • Deep-set eyes

The following ocular abnormalities are also common:

  • Dislocated lenses (may develop after the neonatal period)
  • Lack of response to light
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Causes

Both isolated sulfite oxidase deficiency[3] and molybdenum cofactor deficiency are autosomal recessive traits. Two complementation groups are involved in molybdenum cofactor synthesis.

Animal studies have found that elevated sulfite levels have neurotoxic effects in rats.

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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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