Clinical and diagnostic approach in Congenital Disorders of Glycosylation type 2 transferrin pattern
Abstract
Clinical and biochemical data of ten patients with a so far genetically unsolved glycosylation defect (CDG) are reviewed. The biochemical results were compatible with a type II transferrin isofocusing pattern, suggestive of a Goldi-related inborn error of metabolism.
By combining biochemical results with distinctive clinical symptoms we composed a diagnostic flow chart to approach the underlying defect in patients with CDG type IIx. In this group of patients, we found great heterogeneity in clinical symptoms and disease severity.
We present a whole new spectrum of CDG-associated anomalies and recommend clinicians to consider CDG syndrome in patients with a far broader spectrum of signs and symptoms than described so far. This includes multiple dysmorphic features, skeletal dysplasia, cardiomyopathy, sudden cardiac arrest, sudden hearing loss, elevated serum copper level, liver failure and endocrine abnormalities.
Normal psychomotor development does not exclude CDG type II.