Megaloblastic Anaemia Complicating Dietary Treatment of Phenylketonuria in Infancy

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Abstract
A detailed case report is given of megaloblastic anemia of infancy occurring during the dietary treatment of phenylketonuria. The anemia is considered to be nutritional in origin, due to folic acid deficiency, and the importance of an adequate daily folic acid supplement to low phenylalanine diets is argued. The literature of megaloblastic anemia in infancy is reviewed and the frequent absence of macrocytosis in the peripheral blood in association with megaloblastic erythropoiesis in this age group is noted. We suggest that marrow biopsy should be performed more frequently in the investigation of anemia in infancy. The problems encountered in dietary management and biochemical control of infants with phenylketonuria are discussed. Our experience supports the view that a more generous diet may be needed to avoid other unrecognized nutritional deficiency in these infants. Frequent clinical assessment is the most important means of checking progress and temporary relaxation of the diet may be necessary if there is failure to thrive.