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Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

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dc.contributor.authorsGroeneweg, Stefan; van Geest, Ferdy S.; Abaci, Ayhan; Alcantud, Alberto; Ambegaonkar, Gautem P.; Armour, Christine M.; Bakhtiani, Priyanka; Barca, Diana; Bertini, Enrico S.; van Beynum, Ingrid M.; Brunetti-Pierri, Nicola; Bugiani, Marianna; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; de Coo, Irenaeus F. M.; Coutant, Regis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dica, Alice; Dimitri, Paul; Dolcetta-Capuzzo, Anna; Dremmen, Marjolein H. G.; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; George, Belinda; Gevers, Evelien F.; Hackenberg, Annette; Halasz, Zita; Heinrich, Bianka; Huynh, Tony; Klosowska, Anna; van der Knaap, Marjo S.; van der Knoop, Marieke M.; Konrad, Daniel; Koolen, David A.; Krude, Heiko; Lawson-Yuen, Amy; Lebl, Jan; Linder-Lucht, Michaela; Lorea, Claudia F.; Lourenco, Charles M.; Lunsing, Roelineke J.; Lyons, Greta; Malikova, Jana; Mancilla, Edna E.; McGowan, Anne; Mericq, Veronica; Lora, Felipe M.; Moran, Carla; Mueller, Katalin E.; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G.; Polak, Michel; Porta, Francesco; Poswar, Fabiano O.; Reinauer, Christina; Rozenkova, Klara; Menevse, Tuba S.; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; van der Spek, Jet; Stals, Milou A. M.; Stoupa, Athanasia; Subramanian, Gopinath M.; Tonduti, Davide; Turan, Serap; den Uil, Corstiaan A.; Vanderniet, Joel; van der Walt, Adri; Wemeau, Jean-Louis; Wierzba, Jolante; de Wit, Marie-Claire Y.; Wolf, Nicole, I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Visser, W. Edward
dc.date.accessioned2022-03-14T09:32:47Z
dc.date.accessioned2026-01-10T20:22:12Z
dc.date.available2022-03-14T09:32:47Z
dc.date.issued2020-07
dc.description.abstractBackground Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. p p p Interpretation Our description of characteristics of MCT8 deficiency in a large patient cohort reveals poor survival with a high prevalence of treatable underlying risk factors, and provides knowledge that might inform clinical management and future evaluation of therapies.
dc.identifier.doi10.1016/S2213-8587(20)30153-4
dc.identifier.eissn2213-8595
dc.identifier.issn2213-8587
dc.identifier.pubmed32559475
dc.identifier.urihttps://hdl.handle.net/11424/243249
dc.identifier.wosWOS:000549557700019
dc.language.isoeng
dc.publisherELSEVIER SCIENCE INC
dc.relation.ispartofLANCET DIABETES & ENDOCRINOLOGY
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectMONOCARBOXYLATE TRANSPORTER-8
dc.subjectPSYCHOMOTOR RETARDATION
dc.subjectHEART-RATE
dc.subjectHORMONE
dc.subjectMUTATIONS
dc.titleDisease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
dc.typearticle
dspace.entity.typePublication
oaire.citation.endPage605
oaire.citation.issue7
oaire.citation.startPage594
oaire.citation.titleLANCET DIABETES & ENDOCRINOLOGY
oaire.citation.volume8

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