Wiley, Journal of Inherited Metabolic Disease, 5(39), p. 713-723
DOI: 10.1007/s10545-016-9945-x
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Introduction: Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, and increased bleeding tendency. Methods: Based on Euroglycan database registration, we approached referring clinicians and collected comprehensive data on 41 patients. Results: We found hypotonia and developmental delay in all ALG6-CDG patients and epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive. Nine patients developed intractable seizures. Coagulation anomalies were present in