Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation

David Fgj Wolthuis, Miriam C. Janssen, David Cassiman, Dirk J. Lefeber, Eva Morava-Kozicz

Research output: Contribution to journalReview articlepeer-review

8 Scopus citations


Congenital disorders of N-glycosylation (CDG) form a rapidly growing group of more than 20 inborn errors of metabolism. Most patients are identified at the pediatric age with multisystem disease. There is no systematic review on the long-term outcome and clinical presentation in adult patients. Here, we review the adult phenotype in 78 CDG patients diagnosed with 18 different forms of N-glycosylation defects. Characteristics include intellectual disability, speech disorder and abnormal gait. After puberty, symptoms might remain non-progressive and patients may lead a socially functional life. Thrombosis and progressive symptoms, such as peripheral neuropathy, scoliosis and visual demise are specifically common in PMM2-CDG. Especially in adult patients, diagnostic glycosylation screening can be mildly abnormal or near-normal, hampering diagnosis. Features of adult CDG patients significantly differ from the pediatric phenotype. Non-syndromal intellectual disability, or congenital malformations in different types of CDG and decreasing sensitivity of screening might be responsible for the CDG cases remaining undiagnosed until adulthood.

Original languageEnglish (US)
Pages (from-to)217-224
Number of pages8
JournalExpert Review of Molecular Diagnostics
Issue number2
StatePublished - Mar 2014


  • CDG
  • N-linked glycosylation
  • adult metabolic disease
  • ataxia
  • cataract
  • scoliosis
  • thrombosis

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine
  • Molecular Biology
  • Genetics


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