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dc.contributor.authorMoravej, H
dc.contributor.authorAltassan, R
dc.contributor.authorJaeken, J
dc.contributor.authorEnns, GM
dc.contributor.authorEllaway, C
dc.contributor.authorBalasubramaniam, S
dc.contributor.authorDe Lonlay, P
dc.contributor.authorComan, D
dc.contributor.authorMercimek-Andrews, S
dc.contributor.authorWitters, P
dc.contributor.authorMorava, E
dc.date.accessioned2020-08-03T04:21:09Z
dc.date.available2020-08-03T04:21:09Z
dc.date.issued2020
dc.identifier.issn2192-8304en_US
dc.identifier.doi10.1002/jmd2.12085en_US
dc.identifier.urihttp://hdl.handle.net/10072/396082
dc.description.abstractBackground: Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2-CDG. The frequency and etiology of hypoglycemia in PMM2-CDG are not well studied. Methods: We conducted a systematic review of the literature on genetically and/or biochemically confirmed PMM2-CDG patients who developed hypoglycemia. Prospective follow-up information on the patients who received diazoxide therapy was collected and evaluated. Results: A total of 165 peer-reviewed articles reporting on 933 PMM2-CDG patients were assessed. Hypoglycemia was specifically mentioned only in 23 of these patients (2.5%). Hyperinsulinism was identified in 10 patients (43% of all hypoglycemic patients). Among these 10 patients, seven were successfully treated with diazoxide. However, most patients remained on therapy longer than a year to stay free of hypoglycemia. Conclusion: Hypoglycemia is a rarely reported finding in patients with PMM2-CDG. Diazoxide-responsive hyperinsulinism was found to have a good prognosis on medication in our PMM2-CDG patients with hypoglycemia. No genotype-phenotype correlation was observed with respect to hyperinsulinism. A prospective study should be undertaken to explore the hypothesis that hypoglycemia is underdiagnosed in PMM2-CDG and to evaluate whether hyperinsulinism is always associated with hypoglycemia.en_US
dc.description.peerreviewedYesen_US
dc.languageengen_US
dc.publisherWileyen_US
dc.relation.ispartofpagefrom76en_US
dc.relation.ispartofpageto81en_US
dc.relation.ispartofissue1en_US
dc.relation.ispartofjournalJIMD Reportsen_US
dc.relation.ispartofvolume51en_US
dc.subject.keywordsCDGen_US
dc.subject.keywordsPMM2‐CDGen_US
dc.subject.keywordscongenital disorder(s) of glycosylationen_US
dc.subject.keywordsdiazoxideen_US
dc.subject.keywordshyperinsulinismen_US
dc.titleHypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patientsen_US
dc.typeJournal articleen_US
dc.type.descriptionC1 - Articlesen_US
dcterms.bibliographicCitationMoravej, H; Altassan, R; Jaeken, J; Enns, GM; Ellaway, C; Balasubramaniam, S; De Lonlay, P; Coman, D; Mercimek-Andrews, S; Witters, P; Morava, E, Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients, JIMD Reports, 2020, 51 (1), pp. 76-81en_US
dcterms.dateAccepted2019-10-30
dcterms.licensehttp://creativecommons.org/licenses/by/4.0/en_US
dc.date.updated2020-08-03T04:16:49Z
dc.description.versionPublisheden_US
gro.rights.copyright© 2019 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.en_US
gro.hasfulltextFull Text
gro.griffith.authorComan, Dave J.


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