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

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 defi ciency. Fabry disease (FD) is an X-linked lysosomal storage disorder due to a defi ciency of the enzyme alpha-galactosidase A. Case presentation: We report a case of a 3-year-old boy affected by classic PKU and FD, both confi rmed by molecular data. The FD was suspected at the age of 21 months on the presence of non-specifi c GI symptoms (severe abdominal pain and periodically appearance of not specifi c episodes of gastroenteritis) apparently non related to PKU. Conclusion: This is the fi rst report of co-existence of FD and PKU, two different congenital inborn of metabolism and in consideration of the prevalence of each disease this chance association is a very unusual event. The co-existence of these diseases made very diffi cult the correct interpretation of clinical symptoms as lack of appetite, severe abdominal pain and non-specifi c gastroenteritis episodes. Furthermore, this case report helps to defi ne the early clinical phenotype of FD