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Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

2021-08Journal article Open access
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dc.contributor.authorČechová, Anna
dc.contributor.authorHonzík, Tomáš
dc.contributor.authorEdmondson, Andrew C.
dc.contributor.authorFicicioglu, Can
dc.contributor.authorSerrano, Mercedes
dc.contributor.authorBarone, Rita
dc.contributor.authorDe Lonlay, Pascale
dc.contributor.authorSchiff, Manuel
dc.contributor.authorWitters, Peter
dc.contributor.authorLam, Christina
dc.contributor.authorPatterson, Marc
dc.contributor.authorJanssen, Mirian C.H.
dc.contributor.authorCorreia, Joana
dc.contributor.authorQuelhas, D
dc.contributor.authorSykut-Cegielska, Jolanta
dc.contributor.authorPlotkin, Horacio
dc.contributor.authorMorava, Eva
dc.contributor.authorSarafoglou, Kyriakie
dc.date.accessioned2023-11-12T19:04:25Z
dc.date.available2023-11-12T19:04:25Z
dc.date.issued2021-08
dc.description.abstractPMM2-CDG is the most common congenital disorder of glycosylation (CDG) accounting for almost 65% of known CDG cases affecting N-glycosylation. Abnormalities in N-glycosylation could have a negative impact on many endocrine axes. There is very little known on the effect of impaired N-glycosylation on the hypothalamic-pituitary-adrenal axis function and whether CDG patients are at risk of secondary adrenal insufficiency and decreased adrenal cortisol production. Cortisol and ACTH concentrations were simultaneously measured between 7:44 am to 1 pm in forty-three subjects (20 female, median age 12.8 years, range 0.1 to 48.6 years) participating in an ongoing international, multi-center Natural History study for PMM2-CDG (ClinicalTrials.gov Identifier: NCT03173300). Of the 43 subjects, 11 (25.6%) had cortisol below 5 μg/dl and low to normal ACTH levels, suggestive of secondary adrenal insufficiency. Two of the 11 subjects have confirmed central adrenal insufficiency and are on hydrocortisone replacement and/or stress dosing during illness; 3 had normal and 1 had subnormal cortisol response to ACTH low-dose stimulation test but has not yet been started on therapy; the remaining 5 have upcoming stimulation testing planned. Our findings suggest that patients with PMM2-CDG may be at risk for adrenal insufficiency. Monitoring of morning cortisol and ACTH levels should be part of the standard care in patients with PMM2-CDG.pt_PT
dc.description.sponsorshipGlycomine, Inc. was the sponsor of this study, and was involved in the study design and in the and interpretation of data; in the writing of the report; and in the decision to submit the article for publication. Several authors of this publication are members of the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN) - Project ID No 739543.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationČechová A, Honzík T, Edmondson AC, et al. Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?. Mol Genet Metab. 2021;133(4):397-399. doi:10.1016/j.ymgme.2021.06.003pt_PT
dc.identifier.doi10.1016/j.ymgme.2021.06.003pt_PT
dc.identifier.issn1096-7192
dc.identifier.issn1096-7206
dc.identifier.urihttp://hdl.handle.net/10400.16/2877
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pii/S109671922100723X?via%3Dihubpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectACTHpt_PT
dc.subjectCDGpt_PT
dc.subjectCortisolpt_PT
dc.subjectGlycosylationpt_PT
dc.subjectInborn errors of metabolismpt_PT
dc.subjectPMM2-CDGpt_PT
dc.subjectPhosphomannomutase 2-CDGpt_PT
dc.titleShould patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?pt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceUnited States of Americapt_PT
oaire.citation.endPage399pt_PT
oaire.citation.issue4pt_PT
oaire.citation.startPage397pt_PT
oaire.citation.titleMolecular Genetics and Metabolismpt_PT
oaire.citation.volume133pt_PT
person.familyNameCorreia
person.familyNameQuelhas
person.givenNameJoana
person.givenNameDulce
person.identifier.ciencia-id921C-8052-6FC5
person.identifier.orcid0000-0002-0245-6840
person.identifier.orcid0000-0001-9989-9236
person.identifier.scopus-author-id57193789579
person.identifier.scopus-author-id6507796178
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationb2845278-18f6-4ea0-821c-54833f676333
relation.isAuthorOfPublicationa7117e6e-c216-451e-9f9a-b2cd8dab81e4
relation.isAuthorOfPublication.latestForDiscoveryb2845278-18f6-4ea0-821c-54833f676333

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