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.
Original language | English (US) |
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Pages (from-to) | 217-224 |
Number of pages | 8 |
Journal | Expert Review of Molecular Diagnostics |
Volume | 14 |
Issue number | 2 |
DOIs | |
State | Published - Mar 2014 |
Keywords
- CDG
- N-linked glycosylation
- adult metabolic disease
- ataxia
- cataract
- scoliosis
- thrombosis
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Molecular Medicine
- Molecular Biology
- Genetics