Author/Authors :
Lamouchi, Mohamed Tahar Department of Pediatrics - La Rabta Hospital - Tunis, Tunisia , Messaoud, Sana Ben Laboratory of Research LR12SPO2 , Abdelaziz, Rim Ben University Tunis Elmanar - Faculty of Medicine of Tunis , Mellouli, Fathi University Tunis Elmanar - Faculty of Medicine of Tunis , Khaled, Monia Ben University Tunis Elmanar - Faculty of Medicine of Tunis , Doghri, Raoudha University Tunis Elmanar - Faculty of Medicine of Tunis , Boudabous, Hela University Tunis Elmanar - Faculty of Medicine of Tunis , Chehida, Amel Ben University Tunis Elmanar - Faculty of Medicine of Tunis , Azzouz, Hatem University Tunis Elmanar - Faculty of Medicine of Tunis , Bejaoui, Mohamed University Tunis Elmanar - Faculty of Medicine of Tunis , Tebib, Néji University Tunis Elmanar - Faculty of Medicine of Tunis
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.
