{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T16:25:33Z","timestamp":1761927933858},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2010,5,17]],"date-time":"2010-05-17T00:00:00Z","timestamp":1274054400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case presentation<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2431-10-32","type":"journal-article","created":{"date-parts":[[2010,5,18]],"date-time":"2010-05-18T06:14:23Z","timestamp":1274163263000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report"],"prefix":"10.1186","volume":"10","author":[{"given":"Daniela","family":"Concolino","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Rapsomaniki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliana","family":"Disabella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona","family":"Sestito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria G","family":"Pascale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria T","family":"Moricca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Bonapace","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisea","family":"Arbustini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pietro","family":"Strisciuglio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2010,5,17]]},"reference":[{"key":"344_CR1","first-page":"1667","volume-title":"The metabolic and molecular bases of inherited disease","author":"CR Scriver","year":"2001","unstructured":"Scriver CR, Kaufman K: Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. The metabolic and molecular bases of inherited disease. Edited by: Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler KW, Vogelstein Bl. 2001, New York. McGraw-Hill, 1667-1724."},{"key":"344_CR2","unstructured":"The Human Gene Mutation Database [update 2005 June]. HGMD. [http:\/\/www.hgmd.cf.ac.uk]"},{"key":"344_CR3","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1023\/A:1012499119196","volume":"24","author":"R Schiffmann","year":"2001","unstructured":"Schiffmann R: Natural history of Fabry disease in males: preliminary observations. 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