title: Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case report.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, University Magna Graecia, Catanzaro, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Concolino
authors.forename: Maria
authors.initials: M
authors.lastname: Rapsomaniki
authors.forename: Eliana
authors.initials: E
authors.lastname: Disabella
authors.forename: Simona
authors.initials: S
authors.lastname: Sestito
authors.forename: Maria G
authors.initials: MG
authors.lastname: Pascale
authors.forename: Maria T
authors.initials: MT
authors.lastname: Moricca
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Bonapace
authors.forename: Elisea
authors.initials: E
authors.lastname: Arbustini
authors.forename: Pietro
authors.initials: P
authors.lastname: Strisciuglio
mesh_terms: D015746:Abdominal Pain / Q000209:etiology / Q000503:physiopathology; D002675:Child, Preschool; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D005767:Gastrointestinal Diseases / Q000209:etiology / Q000503:physiopathology; D006801:Humans; D008297:Male; D010641:Phenotype; D010651:Phenylalanine Hydroxylase / Q000172:deficiency* / Q000235:genetics; D010661:Phenylketonurias / Q000150:complications* / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D010651:Phenylalanine Hydroxylase; D000519:alpha-Galactosidase