Use

Useful for diagnosis of molybdenum cofactor deficiency, isolated sulfite oxidase deficiency, and hereditary xanthinuria, and for monitoring patients with these conditions during treatment. Elevated S‑sulfocysteine may indicate MoCD or ISOD; hypoxanthine and uric acid levels vary depending on disorder type. Hereditary xanthinuria is indicated by increased xanthine and decreased uric acid in urine. Confirmation may require molecular or enzyme testing of genes such as MOCS1, MOCS2, MOCS3, GPHN, SUOX, XDH, or MOCOS.