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Type la glycogen storage disease complicated with diabetes mellitus: the role of flash continuous glucose monitoring

dc.contributor.authorMarcalo, Jose
dc.contributor.authorOliveira, Anabela
dc.contributor.authorNunes, Patricia Almeida
dc.contributor.authorVale, Sónia do
dc.date.accessioned2023-03-03T15:09:01Z
dc.date.available2023-03-03T15:09:01Z
dc.date.issued2021
dc.description© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.pt_PT
dc.description.abstractA 22-year-old woman with type Ia glycogen storage disease was referred to the endocrinology department with new-onset diabetes mellitus-glycated haemoglobin (HbA1c) of 8.2%. She had suffered from repeated bouts of hypoglycaemia since the first days of her life. The diagnosis was made at 5 months old, after clinical investigations revealed mixed dyslipidaemia, lactic acidosis and hepatomegaly. Compound heterozygosity was documented at the age of 4. The basis of her initial treatment was starch and reinforced soy milk, ingested multiple times a day and night. The patient suffered from obesity since childhood. This case shows a rare association between glycogen storage disease type Ia and diabetes mellitus. A multidisciplinary approach was implemented. Through diet and use of flash continuous glucose monitoring, we were able to improve patient's adherence and metabolic profile. Hypoglycaemia and hyperglycaemia risk significantly decreased; 86% time in range (70-180 mg/dL), 6% hypoglycaemia and 6.3% HbA1c in recent evaluations.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBMJ Case Rep. 2021 Mar 25;14(3):e240489pt_PT
dc.identifier.doi10.1136/bcr-2020-240489pt_PT
dc.identifier.eissn1757-790X
dc.identifier.urihttp://hdl.handle.net/10451/56533
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBMJ Publishing Grouppt_PT
dc.relation.publisherversionhttps://casereports.bmj.com/pt_PT
dc.subjectDiabetespt_PT
dc.subjectMetabolic disorderspt_PT
dc.titleType la glycogen storage disease complicated with diabetes mellitus: the role of flash continuous glucose monitoringpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue3pt_PT
oaire.citation.titleBMJ Case Reportspt_PT
oaire.citation.volume14pt_PT
person.familyNameMarcalo
person.familyNameMarina dos Santos Almeida Nunes e Sobral de Matos
person.familyNamedo Vale
person.givenNameJose
person.givenNamePatricia
person.givenNameSónia
person.identifier282322
person.identifier.ciencia-id8117-8D4D-622D
person.identifier.ciencia-id0E1A-AE02-05AB
person.identifier.orcid0000-0002-0486-9366
person.identifier.orcid0000-0003-2998-9097
person.identifier.orcid0000-0001-9287-4095
person.identifier.scopus-author-id15825086700
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication441238ed-14ce-4524-ad3f-8aa4cf7882c8
relation.isAuthorOfPublicationd2397c9d-b48d-4e3b-9af5-54b2a06404d0
relation.isAuthorOfPublicationcff86a29-07ce-4454-8325-5774370286ff
relation.isAuthorOfPublication.latestForDiscoverycff86a29-07ce-4454-8325-5774370286ff

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