Macrocytic anemia in Lesch-Nyhan disease and its variants.


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


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.


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

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