Sulfite Oxidase Deficiency
Sulfite Oxidase Deficiency Causes
Both the isolated sulfite oxidase deficiency and molybdenum cofactor deficiency are autosomal recessive traits. Two complementation groups are involved in the synthesis of molybdenum cofactor.
Sulfite Oxidase Deficiency Definition
Sulfite oxidase deficiency is a congenital error of the metabolism of sulfated amino acids. Individuals affected with sulfite oxidase deficiency typically present in the neonatal period with intractable seizures, characteristic dysmorphic features, and profound mental retardation.
Sulfite Oxidase Deficiency Diagnosis
Prenatal diagnosis of sulfite oxidase deficiency has been done by measuring s-sulfocysteine in amniotic fluid, by an assay of sulfite oxidase activity in chorionic villi, and by DNA analysis.
Sulfite Oxidase Deficiency Symptoms and Signs
The following characteristic anomalies may be observed in patients: narrow bifrontal diameter, deep-set eyes, dislocated lenses, and a lack of response to light.
Sulfite Oxidase Deficiency Treatment
No medical treatments that improve neurologic outcome are known, especially for those with neonatal presentation of this disorder.