Pancytopenia Revealing Phenylketonuria: Coincidence or First Case Report
Journal Title: Iranian Journal of Blood and Cancer - Year 2018, Vol 10, Issue 1
Abstract
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.
Authors and Affiliations
Rim Ben Abdelaziz, Fathi Mellouli, Mohamed Tahar Lamouchi, Sana Ben Messaoud, Monia Ben Khaled, Raoudha Doghri, Hela Boudabous, Amel Ben Chehida, Hatem Azzouz, Mohamed Bejaoui, Néji Tebib
Keywords
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