Red cell enzyme defects.
Erythrocytes are a readily available cell type that has proved to be extraordinarily useful in the diagnosis of enzyme abnormalities, both of genetic and nutritional origin. The metabolism of red cells is reviewed briefly, particularly with respect to the consequences of abnormalities in different types of enzymes. Erythrocyte enzyme abnormalities are classified into three broad, somewhat overlapping groups: (1) those that lead to abnormalities of red cell functions; (2) those that are reflected in the red cells but whose clinical consequences are primarily manifested in other tissues; and (3) those that have no known clinical consequences. Genetic variability of red cell enzymes is discussed, and advances in understanding red cell enzyme defects at the DNA level are highlighted.
Beutler
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Scripps Clinic and Research Foundation, Department of Molecular and Experimental Medicine, La Jolla, California 92037.
D001693:Biological Transport, Active / Q000502:physiology; D004796:Clinical Enzyme Tests; D004905:Erythrocyte Aging / Q000502:physiology; D004912:Erythrocytes / Q000201:enzymology* / Q000378:metabolism; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000201:enzymology*; D006801:Humans; D009154:Mutation / Q000235:genetics