%0 Journal Article %A Ben Abdelaziz, Rim %A Mellouli, Fathi %A Lamouchi, Mohamed Tahar %A Ben Messaoud, Sana %A Ben Khaled, Monia %A Doghri, Raoudha %A Boudabous, Hela %A Ben Chehida, Amel %A Azzouz, Hatem %A Bejaoui, Mohamed %A Tebib, Neji %T Pancytopenia Revealing Phenylketonuria: Coincidence or First Case Report %J Iranian Journal of Blood and Cancer %V 10 %N 1 %U http://ijbc.ir/article-1-771-en.html %R %D 2018 %K Phenylketonuria, Pancytopenia, Infant, %X Pancytopenia in childhood can be caused by a variety of underlying diseases including hematological and non-hematological entities. Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism. No association between PKU and pancytopenia has ever been reported. We report the first case of PKU revealed by a pancytopenia at presentation. The patient was an infant girl born to healthy non-consanguineous parents with unremarkable family history. A hereditary metabolic disease workup was performed due to the presence of unexplained hematological features and a global developmental delay. Plasma aminoacid profile by thin-layer chromatography showed elevation of phenylalanine and urine organic acid chromatography showed accumulation of metabolites of phenylalanine; whereas, methylmalonic acid or other abnormal organic acids were not found. This is the first case of untreated PKU associated with pancytopenia who improved with low-phenylalanine diet. %> http://ijbc.ir/article-1-771-en.pdf %P 25-27 %& 25 %! %9 Case report %L A-10-342-1 %+ Department of Pediatrics, La Rabta Hospital, Tunis Tunisia %G eng %@ 2008-4595 %[ 2018