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

Autor: Concolino D; Department of Pediatrics, University Magna Graecia, Catanzaro, Italy., Rapsomaniki M, Disabella E, Sestito S, Pascale MG, Moricca MT, Bonapace G, Arbustini E, Strisciuglio P
Jazyk: angličtina
Zdroj: BMC pediatrics [BMC Pediatr] 2010 May 17; Vol. 10, pp. 32. Date of Electronic Publication: 2010 May 17.
DOI: 10.1186/1471-2431-10-32
Abstrakt: 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.
Databáze: MEDLINE
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