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MADISON CAWEIN, MD; CHARLES H. BEHLEN II, MD; E. J. LAPPAT, MD; JEROME E. COHN, MD

Arch Intern Med. 1964;113(4):578-585.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

Congenital cyanosis due to an abnormal amount of methemoglobin was initially reported early in this century.^1,2 It was first suggested by Hitzenberger³ in 1932 that this was an inherited metabolic disease. Gibson ⁴ in 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,⁵ in 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.

Materials and Methods

The family under study consisted of 189 known individuals both . . . [Full Text PDF of this Article]

Author Affiliations
LEXINGTON, KY; CHARLOTTESVILLE, VA; LEXINGTON, KY

Footnotes
Received for publication Aug 7, 1963; accepted Sept 4.

Preliminary reports of portions of this study have been presented at the meeting of the Central Society for Clinical Research, Chicago, Nov 3, 1962, and at the meeting of the American Society of Hematology, Columbus, Ohio, Nov 26, 1962.

Assistant Professor, Department of Medicine, University of Kentucky Medical Center, Lexington (Dr. Carwein); University of Virginia Medical School, Charlottesville (Dr. Behlen); Instructor in Medicine, University of Kentucky Medical Center, Lexington (Dr. Lappat); Assistant Professor, Department of Medicine, University of Kentucky Medical Center, Lexington (Dr. Cohn).

This work was in part supported by funds from the American Medical Research Foundation grant No. 44.

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