Macrocytic anemia in Lesch-Nyhan disease and its variants.

Affiliation

Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA. [Email]

Abstract

Lesch-Nyhan disease is an inherited metabolic disorder characterized by overproduction of uric acid and neurobehavioral abnormalities. The purpose of this study was  to describe macrocytic erythrocytes as another common aspect of the phenotype.

Keywords

HPRT1,Lesch–Nyhan disease,hypoxanthine-guanine phosphoribosyltransferase,macrocytic anemia,megaloblastic anemia,

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