Congenital disorders of glycosylation
The congenital disorders of glycosylation syndromes constitute a group of severe syndromes with a broad phenotypic expression within and between subtypes. In most patients there are signs of nervous system involvement where typical manifestations include structural abnormalities, developmental delay, intellectual disability, stroke-like episodes, epileptic seizures, myopathies, myasthenia, and demyelinating neuropathy. A majority (60%) can be detected using a transferrin glycosylation test.
Jun. 01, 2013