:: Volume 10, Issue 1 (March 2018 2018) ::
IJBC 2018, 10(1): 25-27 Back to browse issues page
Pancytopenia Revealing Phenylketonuria: Coincidence or First Case Report
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 , Neji Tebib
Department of Pediatrics, La Rabta Hospital, Tunis Tunisia
Abstract:   (729 Views)
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.
Keywords: Phenylketonuria, Pancytopenia, Infant
Full-Text [PDF 398 kb]   (497 Downloads)    
: case report | Subject: Pediatric Hematology & Oncology
Received: 2017/11/10 | Accepted: 2018/04/7 | Published: 2018/05/8

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Volume 10, Issue 1 (March 2018 2018) Back to browse issues page