Neurology of inherited glycosylation disorders

Hudson H. Freeze, Erik A. Eklund, Bobby G. Ng, Marc C. Patterson

Research output: Contribution to journalReview articlepeer-review

122 Scopus citations


Congenital disorders of glycosylation comprise most of the nearly 70 genetic disorders known to be caused by impaired synthesis of glycoconjugates. The effects are expressed in most organ systems, and most involve the nervous system. Typical manifestations include structural abnormalities (eg, rapidly progressive cerebellar atrophy), myopathies (including congenital muscular dystrophies and limb-girdle dystrophies), strokes and stroke-like episodes, epileptic seizures, developmental delay, and demyelinating neuropathy. Patients can also have neurological symptoms associated with coagulopathies, immune dysfunction with or without infections, and cardiac, renal, or hepatic failure, which are common features of glycosylation disorders. The diagnosis of congenital disorder of glycosylation should be considered for any patient with multisystem disease and in those with more specific phenotypic features. Measurement of concentrations of selected glycoconjugates can be used to screen for many of these disorders, and molecular diagnosis is becoming more widely available in clinical practice. Disease-modifying treatments are available for only a few disorders, but all affected individuals benefit from early diagnosis and aggressive management.

Original languageEnglish (US)
Pages (from-to)453-466
Number of pages14
JournalThe Lancet Neurology
Issue number5
StatePublished - May 2012

ASJC Scopus subject areas

  • Clinical Neurology


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