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 deficiency. Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency 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 confirmed by molecular data. The FD was suspected at the age of 21 months on the presence of non-specific GI symptoms (severe abdominal pain and periodically appearance of not specific episodes of gastroenteritis) apparently non related to PKU.Conclusion: This is the first 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 this diseases made very difficult the correct interpretation of clinical symptoms as lack of appetite, severe abdominal pain and non-specific gastroenteritis episodes. Furthermore, this case report helps to define the early clinical phenotype of FD. © 2010 Concolino et al; licensee BioMed Central Ltd.
CITATION STYLE
Concolino, D., Rapsomaniki, M., Disabella, E., Sestito, S., Pascale, M. G., Moricca, M. T., … Strisciuglio, P. (2010). Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: Case report. BMC Pediatrics, 10. https://doi.org/10.1186/1471-2431-10-32
Mendeley helps you to discover research relevant for your work.