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

Daniela Concolino, Maria Rapsomaniki, Eliana Disabella, Simona Sestito, Maria G. Pascale, Maria T. Moricca, Giuseppe Bonapace, Elisea Arbustini, Pietro Strisciuglio

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number32
JournalBMC Pediatrics
Publication statusPublished - May 17 2010

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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