Complexity of the diagnosis of congenital disorders of glycosylation

Abstract

Introduction: Congenital Glycosylation Disorders (CDG) is a group of pathologies caused by the disorder of the glycosylation process of glycoproteins and glycoconjugates with various disabling multisystem impairment mimicking other pathologies. Purpose: The implementation of the diagnostic algorithm and identify cases of CDG in the cohort of Moldovan patients. Material and methods: serum of 40 patients suspected for CDG were analyzed by isoelectric focusing of transferrin (IEFT) and urine by NMR spectroscopy. Results: The clinical manifestations of the patients were: hypotonia, hepatomegaly, mild hypoglycemia, increased transaminases, abnormal brain MRI, dysmorphic features, failure to thrive and neurological manifestations. Conclusions: The variety of symptoms in CDG lead to missdiagnosis other pathologies. In the process of diagnosing CDG it is mandatory to exclude secondary abnormalities of glycosylation.