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 journalArticle

3 Citations (Scopus)

Abstract

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
Volume10
DOIs
Publication statusPublished - May 17 2010

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Fabry Disease
Phenylketonurias
Gastroenteritis
Abdominal Pain
Inborn Errors Metabolism
Appetite
Phenotype
Enzymes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

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, [32]. https://doi.org/10.1186/1471-2431-10-32

Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy : Case report. / Concolino, Daniela; Rapsomaniki, Maria; Disabella, Eliana; Sestito, Simona; Pascale, Maria G.; Moricca, Maria T.; Bonapace, Giuseppe; Arbustini, Elisea; Strisciuglio, Pietro.

In: BMC Pediatrics, Vol. 10, 32, 17.05.2010.

Research output: Contribution to journalArticle

Concolino, D, Rapsomaniki, M, Disabella, E, Sestito, S, Pascale, MG, Moricca, MT, Bonapace, G, Arbustini, E & Strisciuglio, P 2010, 'Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: Case report', BMC Pediatrics, vol. 10, 32. https://doi.org/10.1186/1471-2431-10-32
Concolino, Daniela ; Rapsomaniki, Maria ; Disabella, Eliana ; Sestito, Simona ; Pascale, Maria G. ; Moricca, Maria T. ; Bonapace, Giuseppe ; Arbustini, Elisea ; Strisciuglio, Pietro. / Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy : Case report. In: BMC Pediatrics. 2010 ; Vol. 10.
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