TY - JOUR JF - IJBC JO - Iranian Journal of Blood and Cancer VL - 10 IS - 1 PY - 2018 Y1 - 2018/3/01 TI - Pancytopenia Revealing Phenylketonuria: Coincidence or First Case Report TT - N2 - 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. SP - 25 EP - 27 AU - Ben Abdelaziz, Rim AU - Mellouli, Fathi AU - Lamouchi, Mohamed Tahar AU - Ben Messaoud, Sana AU - Ben Khaled, Monia AU - Doghri, Raoudha AU - Boudabous, Hela AU - Ben Chehida, Amel AU - Azzouz, Hatem AU - Bejaoui, Mohamed AU - Tebib, Neji AD - Department of Pediatrics, La Rabta Hospital, Tunis Tunisia KW - Phenylketonuria KW - Pancytopenia KW - Infant UR - http://ijbc.ir/article-1-771-en.html ER -