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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 du...
Autores principales: | , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2010
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2885380/ https://www.ncbi.nlm.nih.gov/pubmed/20478016 http://dx.doi.org/10.1186/1471-2431-10-32 |
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author | Concolino, Daniela Rapsomaniki, Maria Disabella, Eliana Sestito, Simona Pascale, Maria G Moricca, Maria T Bonapace, Giuseppe Arbustini, Elisea Strisciuglio, Pietro |
author_facet | Concolino, Daniela Rapsomaniki, Maria Disabella, Eliana Sestito, Simona Pascale, Maria G Moricca, Maria T Bonapace, Giuseppe Arbustini, Elisea Strisciuglio, Pietro |
author_sort | Concolino, Daniela |
collection | PubMed |
description | 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. |
format | Text |
id | pubmed-2885380 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-28853802010-06-15 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 BMC Pediatr 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. 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. BioMed Central 2010-05-17 /pmc/articles/PMC2885380/ /pubmed/20478016 http://dx.doi.org/10.1186/1471-2431-10-32 Text en Copyright ©2010 Concolino et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case report 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 |
title | Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report |
title_full | Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report |
title_fullStr | Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report |
title_full_unstemmed | Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report |
title_short | Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report |
title_sort | co-existence of phenylketonuria and fabry disease on a 3 year-old boy: case report |
topic | Case report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2885380/ https://www.ncbi.nlm.nih.gov/pubmed/20478016 http://dx.doi.org/10.1186/1471-2431-10-32 |
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