Glucose Phosphate Isomerase Deficiency as a Cause of Hydrops Fetalis

Abstract

ERYTHROCYTE enzymopathies are well-recognized causes of hemolytic anemia in newborn infants, but have rarely been implicated etiologically in hydrops fetalis or immediate neonatal death. Death occurred within a few hours of birth in only 4 of 260 cases recently reviewed by Matthay and Mentzer.1 One patient was deficient in glucose phosphate isomerase (D-glucose-6-phosphate ketol-isomerase, E.C. 5.3.1.9),2 two others in pyruvate kinase,3 , 4 and another in triosephosphate isomerase.5 Hydrops fetalis is also rare in association with the more common deficiencies of glucose-6-phosphate dehydrogenase. In two cases, severe anemia and hydrops in an infant were attributed to maternal ingestion of oxidants (sulfisoxazole,6 fava . . .