Sulfite oxidase catalyzes the oxidation of sulfite to sulfate, which is the final step in the matabolism of sulfure derived from sulfur-containing amino acids.. The presentation of patients is similar to Molybdenum cofactor deficiency.
On imaging patients show edema of the cerebral cortex, white matter, and basal ganglia early. Their is sparing of the hippocampi. Their is increased T1 signal of the cortical-white matter junction and in the basal gagnlia. Subacutely patients show restricted diffusion of the basal ganglia, cerebral cortex, and subcortical white matter. Within the first month patients develop atrophy of the basal ganglia and cystic degeneration of the white matter. Long echo (TE=288) MRS shows very low NAA and elevated lactate.