JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, cilt.33, 2011
Phenylketonuria is a genetic metabolic disorder resulting in phenylalanine accumulation in blood. Phenylacetate, which is an abnormal phenylalanine metabolities, was hypothesized to have anticancer activity. Two-years-old boy was diagnosed with classical phenylketonuria because of mental motor retardation. When the patient was 9-year-old, he developed acute myeloblastic leukemia. Here, we present the case with phenylketonuria and acute myeloblastic leukemia because of its extreme rarity.