Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy case report.docVIP

Concolino et al. BMC Pediatrics 2010, 10:32 /1471-2431/10/32 CASE REPORT Open Access Co-existence of Phenylketonuria and Fabry disease Case report on a 3 year-old boy: case report Daniela Concolino1, Maria Rapsomaniki1, Eliana Disabella2, Simona Sestito1, Maria G Pascale1, Maria T Moricca1, Giuseppe Bonapace1, Elisea Arbustini2 and Pietro Strisciuglio*3 Abstract Background: The co-existence of two genetically distinct metabolic disorders in the same patient has rarely been reported. Phenylketonuria (PKU) is an inborn error of the metabolism resulting from a phenylalanine hydroxylase def