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

Expert Rev Mol Diagn. 2014 Mar;14(2):217-24. doi: 10.1586/14737159.2014.890052. Epub 2014 Feb 13.

Abstract

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.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Adult
  • Ataxia / blood
  • Ataxia / diagnosis
  • Cataract / blood
  • Cataract / diagnosis
  • Congenital Disorders of Glycosylation / blood*
  • Congenital Disorders of Glycosylation / diagnosis*
  • Female
  • Glycosylation
  • Humans
  • Male
  • Phenotype
  • Scoliosis / blood
  • Scoliosis / diagnosis
  • Thrombosis / blood
  • Thrombosis / diagnosis
  • Young Adult