Hereditary Diaphorase Deficiency and Methemoglobinemia

Abstract

Congenital cyanosis due to an abnormal amount of methemoglobin was initially reported early in this century.^1,2It was first suggested by Hitzenberger³in 1932 that this was an inherited metabolic disease. Gibson⁴in 1948 identified idiopathic methemoglobinemia as a disease due to an inborn error of metabolism. He demonstrated that methemoglobin reduction in normal erythrocytes took place through oxidation of triose phosphate and lactate and that there was deficiency in coenzyme factor I in patients with congenital methemoglobinemia. Scott,⁵in 1960 in a study of Eskimo families with congenital methemoglobinemia, demonstrated the hereditary absence of activity of the erythrocyte enzyme diaphorase, which acts to reduce methemoglobin through the DPNH system. It is the purpose of this study to report a family with congenital methemoglobinemia who have a similar hereditary deficiency in erythrocyte diaphorase. <h3>Materials and Methods</h3> The family under study consisted of 189 known individuals both