Metabolic mimics: The disorders of N-linked glycosylation

Marc C. Patterson

Research output: Contribution to journalReview articlepeer-review

19 Scopus citations


N-linked glycosylation is essential for normal cellular function. Defects have now been described in eighteen genes that participate in the process. All give rise to complex multisystem diseases which, with a few exceptions, primarily involve the nervous system. Frequent features of these disorders include developmental delay, ataxia, seizures, stroke-like episodes, recurrent infections, coagulopathy and dysmorphism. Most cases can be detected by screening carbohydrate-deficient transferrin, but definitive diagnosis requires enzymatic and molecular confirmation, frequently in collaboration with a research glycobiologist.

Original languageEnglish (US)
Pages (from-to)144-151
Number of pages8
JournalSeminars in Pediatric Neurology
Issue number3
StatePublished - Sep 2005

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


Dive into the research topics of 'Metabolic mimics: The disorders of N-linked glycosylation'. Together they form a unique fingerprint.

Cite this