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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. 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.

SUBMITTER: Concolino D 

PROVIDER: S-EPMC2885380 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature

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

Concolino Daniela D   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  

BMC pediatrics 20100517


<h4>Background</h4>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.<h4>Case presentation</h4>We report a case of a 3 year- old boy affected by classic PKU and FD, both confirmed by molecular data. The FD wa  ...[more]

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