Thyroid function in PMM2-CDG: Diagnostic approach and proposed management

Miski Mohamed, Miranda Theodore, Hedi Claahsen van Der Grinten, Antonius E. Van Herwaarden, Karin Huijben, Lotte Van Dongen, Dorus Kouwenberg, Dirk J. Lefeber, Ron A. Wevers, Eva Morava

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)681-683
Number of pages3
JournalMolecular genetics and metabolism
Issue number4
StatePublished - Apr 2012


  • Free T4
  • Glycosylation
  • Hypothyroidism
  • Levothyroxine treatment
  • PMM2-CDG
  • TSH

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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