Metabolic mimics: the disorders of N-linked glycosylation.
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.
Patterson
Marc C
MC
Division of Pediatric Neurology, Columbia University Medical Center, Harkness Pavilion, HP-540, 180 Fort Washington Avenue, New York, NY 10032, USA.
D006031:Glycosylation; D006801:Humans; D008659:Metabolic Diseases / Q000235:genetics* / Q000503:physiopathology*; D008967:Molecular Biology / Q000379:methods; D018716:Molecular Mimicry / Q000502:physiology*