Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case report.
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.
Concolino
Daniela
D
Department of Pediatrics, University Magna Graecia, Catanzaro, Italy.
Rapsomaniki
Maria
M
Disabella
Eliana
E
Sestito
Simona
S
Pascale
Maria G
MG
Moricca
Maria T
MT
Bonapace
Giuseppe
G
Arbustini
Elisea
E
Strisciuglio
Pietro
P
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*
D010651:Phenylalanine Hydroxylase; D000519:alpha-Galactosidase