Sulfite Oxidase Deficiency Treatment & Management
- Author: Georgianne L Arnold, MD; Chief Editor: Luis O Rohena, MD more...
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.
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