title: Thyroid function in PMM2-CDG: diagnostic approach and proposed management.
abstract: Glycoproteins are essential in the production, transport, storage and regulation of thyroid hormones. Altered glycosylation has a potential impact on thyroid function. Abnormal thyroid function tests have been described in patients with congenital disorders of glycosylation. We evaluated the reliability of biochemical markers and investigated thyroid function in 18 PMM2-CDG patients. We propose an expectative therapeutic approach for neonates with thyroid abnormalities in CDG.
authors.affiliation: Department of Pediatrics, Radboud University Nijmegen Medical Center, The Netherlands. m.mohamed@cukz.umcn.nl
authors.forename: Miski
authors.initials: M
authors.lastname: Mohamed
authors.forename: Miranda
authors.initials: M
authors.lastname: Theodore
authors.forename: Hedi
authors.initials: H
authors.lastname: Claahsen-van der Grinten
authors.forename: Antonius E
authors.initials: AE
authors.lastname: van Herwaarden
authors.forename: Karin
authors.initials: K
authors.lastname: Huijben
authors.forename: Lotte
authors.initials: L
authors.lastname: van Dongen
authors.forename: Dorus
authors.initials: D
authors.lastname: Kouwenberg
authors.forename: Dirk J
authors.initials: DJ
authors.lastname: Lefeber
authors.forename: Ron A
authors.initials: RA
authors.lastname: Wevers
authors.forename: Eva
authors.initials: E
authors.lastname: Morava
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000201:enzymology / Q000628:therapy*; D005260:Female; D005500:Follow-Up Studies; D006031:Glycosylation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008137:Longitudinal Studies; D008297:Male; D009439:Neuraminidase / Q000494:pharmacology*; D017875:Phosphotransferases (Phosphomutases) / Q000378:metabolism*; D012189:Retrospective Studies; D013960:Thyroid Function Tests; D013972:Thyrotropin / Q000378:metabolism; D055815:Young Adult
chemical_list: D013972:Thyrotropin; D009439:Neuraminidase; D017875:Phosphotransferases (Phosphomutases); C519582:phosphomannomutase 2, human