Sulfite Oxidase Deficiency

Updated: Oct 13, 2014
  • Author: Georgianne L Arnold, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Sulfite oxidase deficiency is an inborn error of the metabolism of sulfated amino acids. Individuals affected with sulfite oxidase deficiency most commonly present in the neonatal period with intractable seizures, characteristic dysmorphic features, and profound mental retardation.



Inherited defects in the sulfite oxidase enzyme cause the phenotype of sulfite oxidase deficiency in a minority of cases. However, most cases of this disorder are associated with deficiency of the molybdenum-containing pterin cofactor (molybdenum cofactor deficiency). Molybdenum cofactor is associated with the enzymes sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase (see the image below). [1]

Molybdenum cofactor deficiency. Molybdenum cofactor deficiency.

Sulfite oxidase converts sulfite to sulfate. Xanthine dehydrogenase catalyzes the hydroxylation of xanthine and hypoxanthine to produce uric acid. [2] Finally, aldehyde oxidase hydroxylates hypoxanthine into xanthine and functions in detoxification.

As sulfite oxidase deficiency and molybdenum cofactor deficiency have virtually identical phenotypes, the CNS toxicity appears to be secondary to loss of function of sulfite oxidase. Methionine and cysteine normally are metabolized to sulfite and then are oxidized to sulfate by the enzyme sulfite oxidase (see the image below).

Sulfite oxidase deficiency and molybdenum cofactor Sulfite oxidase deficiency and molybdenum cofactor deficiency in the metabolism of sulfated amino acids.

When sulfite oxidase is deficient, alternate metabolic pathways for sulfite are augmented, including formation of metabolites s-sulfocysteine and thiosulfate. S-sulfocysteine probably substitutes for cysteine in connective tissues. This substitution appears to weaken the zonule of the lens (a tissue normally rich in cysteine) and results in the characteristic dislocated lenses. The pathogenesis of the brain damage in those with sulfite oxidase deficiency is not known but may be related to sulfite accumulation or lack of sulfate in the CNS.




United States

Frequency of sulfite oxidase deficiency is unknown; however, this disorder is probably underdiagnosed.


Worldwide, approximately 50 cases of sulfite oxidase deficiency have been reported. The preponderance of reported cases in Europe and the United States most likely represents increased recognition in these countries.


In most cases, this disorder is fatal in infancy or early childhood. Survivors of sulfite oxidase deficiency often have profound mental retardation. Some cases of individuals with sulfite oxidase deficiency with later presentation and more favorable outcome have been reported.


Molybdenum cofactor defect and sulfite oxidase deficiency are panethnic.


Both sexes are equally affected.


Traditionally, infants with this disorder were reported to present in the neonatal period. [3] However, an increasing number of patients have been reported with later onset or deterioration after an intercurrent illness.