title: Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.
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.
authors: Hayward Genetics Center, Tulane University Medical School, New Orleans, LA, 70112, USA.
authors: David F G J
authors: DF
authors: Wolthuis
authors: Miriam C
authors: MC
authors: Janssen
authors: David
authors: D
authors: Cassiman
authors: Dirk J
authors: DJ
authors: Lefeber
authors: Eva
authors: E
authors: Morava
authors: Eva
authors: E
authors: Morava-Kozicz
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D000328:Adult; D001259:Ataxia / Q000097:blood / Q000175:diagnosis; D002386:Cataract / Q000097:blood / Q000175:diagnosis; D018981:Congenital Disorders of Glycosylation / Q000097:blood* / Q000175:diagnosis*; D005260:Female; D006031:Glycosylation; D006801:Humans; D008297:Male; D010641:Phenotype; D012600:Scoliosis / Q000097:blood / Q000175:diagnosis; D013927:Thrombosis / Q000097:blood / Q000175:diagnosis; D055815:Young Adult