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Studies in Health and Disease

William N. Valentine, MD

Arch Intern Med. 1975;135(10):1307-1313.

Abstract
Deficiency states have been well established in nine enzymes of anaerobic glycolysis and suggested, but inadequately confirmed, in others. In addition, hemolytic anemia has been defined in glucose-6-phosphate dehydrogenase deficiency, in certain enzymes of glutathione metabolism of importance to the function of the oxidative hexosemonophosphate shunt, and in certain enzymes of nucleotide metabolism. In heterogeneous dyserythropoietic states with ineffective erythropoiesis, enzyme ratios are grossly distorted and differ greatly from those of either normal or reticulocyte-rich blood. Red blood cell (RBC) enzyme deficiencies show noticeable genetic polymorphism, most apparently recessively transmitted anemias actually resulting from inheritance of two different mutant, allelic genes. In addition to causing hemolytic syndromes in selected instances, deficiencies of enzymes more important to other tissues than to the RBC itself are detectable by assay of hemolysates.

Author Affiliations
From the Department of Medicine, University of California at Los Angeles, Los Angeles.

Footnotes
Received for publication March 5, 1975; accepted April 21.

Read before a symposium in honor of Lawrence E. Young, MD, Rochester, NY, Oct 3,1974.

Reprint requests to Department of Medicine, University of California at Los Angeles, Los Angeles, CA 90024 (Dr. Valentine).

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