Sulfite oxidase deficiency
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.
* Seizures * Reduced muscle tone * Psychomotor retardation * Lens dislocation
* Both isolated sulfite oxidase deficiency 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.
signs and symptoms of Sulfite oxidase deficiency may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Sulfite oxidase deficiency symptoms.