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

• Main Authors: Bonapace Giuseppe, Moricca Maria T, Pascale Maria G, Sestito Simona, Disabella Eliana, Rapsomaniki Maria, Concolino Daniela, Arbustini Elisea, Strisciuglio Pietro
• Format: Article
• Language: English
• Published: BMC 2010-05-01
• Series: BMC Pediatrics
• Online Access: http://www.biomedcentral.com/1471-2431/10/32

<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Case presentation</p> <p>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.</p> <p>Conclusion</p> <p>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.</p>