CDGsairauksiin
Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders caused by defects in the glycosylation pathways that attach sugar molecules to proteins and lipids. Because glycosylation is essential for the stability and function of many biological molecules, CDG can affect multiple organ systems. Clinical features are highly variable and can include developmental delay or intellectual disability, hypotonia, failure to thrive, liver dysfunction, coagulation abnormalities, seizures, vision or hearing problems, and endocrine issues. The presentation often changes with age, and some individuals experience fluctuating symptoms.
CDG are traditionally classified into two broad groups, type I and type II, based on where the
Diagnosis typically begins with screening tests such as serum transferrin isoelectric focusing or other glycosylation pattern
Management is multidisciplinary and supportive, focusing on associated complications like nutrition, growth monitoring, liver and coagulation