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.,
Journal of Inherited Metabolic Disease
Department of Pediatrics

Morava, E., Tiemes, V., Thiel, C., Seta, N., de Lonlay, P., de Klerk, H., … Wevers, R. (2016). ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. Journal of Inherited Metabolic Disease, 39(5), 713–723. doi:10.1007/s10545-016-9945-x