| http://purl.uniprot.org/citations/25781533 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25781533 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundHyperinsulinism-hyperammonemia syndrome (HI/HA) is a rare autosomal dominant disorder presenting with hypoglycemia and hyperammonemia. It is caused by activating mutations in the GLUD1 gene.Case reportsThree patients from two different centers, a 14-month-old female, a 28-year-old female (mother of the first patient) from Toronto and an unrelated 2.5-year-old male from Vienna, presented with multiple episodes of seizures associated with hypoglycemia.ResultsAll patients had mild to moderate hypoglycemia, inappropriate insulin levels and mild hyperammonemia, thus suggesting a disorder of glutamate dehydrogenase (GDH). Molecular genetic testing of the GLUD1 gene identified heterozygous mutations in all patients (patient 1 and her mother a novel c.1526G>C mutation; patient 3 a known c.809C>G mutation).ConclusionWe present three new patients with GDH caused by heterozygous mutation in the GLUD1 gene. Mild hyperammonemia and inappropriately elevated insulin levels should suggest a GLUD1 mutation. Early onset hypoglycemia associated with seizures, and especially a good response to diazoxide treatment, should include this disorder in the differential diagnosis of hyperinsulinemic hypoglycemia."xsd:string |
| http://purl.uniprot.org/citations/25781533 | http://purl.org/dc/terms/identifier | "doi:10.1515/jpem-2014-0441"xsd:string |
| http://purl.uniprot.org/citations/25781533 | http://purl.uniprot.org/core/author | "Mercimek-Mahmutoglu S."xsd:string |
| http://purl.uniprot.org/citations/25781533 | http://purl.uniprot.org/core/author | "Tran C."xsd:string |
| http://purl.uniprot.org/citations/25781533 | http://purl.uniprot.org/core/author | "Perlman K."xsd:string |
| http://purl.uniprot.org/citations/25781533 | http://purl.uniprot.org/core/author | "Konstantopoulou V."xsd:string |
| http://purl.uniprot.org/citations/25781533 | http://purl.uniprot.org/core/author | "Kronick J.B."xsd:string |
| http://purl.uniprot.org/citations/25781533 | http://purl.uniprot.org/core/author | "Mecjia M."xsd:string |
| http://purl.uniprot.org/citations/25781533 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/25781533 | http://purl.uniprot.org/core/name | "J Pediatr Endocrinol Metab"xsd:string |
| http://purl.uniprot.org/citations/25781533 | http://purl.uniprot.org/core/pages | "873-876"xsd:string |
| http://purl.uniprot.org/citations/25781533 | http://purl.uniprot.org/core/title | "Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene."xsd:string |
| http://purl.uniprot.org/citations/25781533 | http://purl.uniprot.org/core/volume | "28"xsd:string |
| http://purl.uniprot.org/citations/25781533 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/25781533 |
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