Molybdenum Cofactor Deficiency: Another Inborn Error of Metabolism With Neonatal Onset

Abstract

In Reply.— Matsuo and co-workers correctly point out that molybdenum cofactor deficiency may present in the neonatal period and, therefore, add yet another disorder to the list of inborn errors of metabolism affecting the neonate. Hypouricemia may be a clue, as noted, and ectopia lentis, as seen in isolated sulfite oxidase deficiency, is an additional important finding. The importance of a careful eye examination in infants suspected of having an inborn error of metabolism is again emphasized.