ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
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Publication date
2016-09
Authors
Morava, Eva
Tiemes, Vera
Tiel, Christian
Seta, Nathalie
de Lonlay, Pascale
de Klerk, Hans
Mulder, Margot
Rubio-Gozalbo, Estela
Visser, Gepke
van Hasselt, Peter
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Document Type
Article
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taverne
Abstract
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
Keywords
Taverne, Genetics(clinical), Genetics, Journal Article
Citation
Morava, E, Tiemes, V, Tiel, C, Seta, N, de Lonlay, P, de Klerk, H, Mulder, M, Rubio-Gozalbo, E, Visser, G, van Hasselt, P, Horovitz, D D G, de Souza, C F M, Schwartz, I V D, Green, A, Al-Owain, M, Uziel, G, Sigaudy, S, Chabrol, B, van Spronsen, F J, Steinert, M, Komini, E, Wurm, D, Bevot, A, Ayadi, A, Huijben, K, Dercksen, M, Witters, P, Jaeken, J, Matthijs, G, Lefeber, D J & Wevers, R A 2016, 'ALG6-CDG : a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies', Journal of Inherited Metabolic Disease, vol. 39, no. 5, pp. 713-723. https://doi.org/10.1007/s10545-016-9945-x