ALG6-CDG : a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Morava, Eva; Tiemes, Vera; Tiel, Christian; Seta, Nathalie; de Lonlay, Pascale; de Klerk, Hans; Mulder, Margot; Rubio-Gozalbo, Estela; Visser, Gepke; van Hasselt, Peter; Horovitz, Dafne D G; de Souza, Carolina Fischinger Moura; Schwartz, Ida V D; Green, Andrew; Al-Owain, Mohammed; Uziel, Graciella; Sigaudy, Sabine; Chabrol, Brigitte; van Spronsen, Franc Jan; Steinert, Martin; Komini, Eleni; Wurm, Donald; Bevot, Andrea; Ayadi, Addelkarim; Huijben, Karin; Dercksen, Marli; Witters, Peter; Jaeken, Jaak; Matthijs, Gert; Lefeber, Dirk J.; Wevers, Ron A.
(2016) Journal of Inherited Metabolic Disease, volume 39, issue 5, pp. 713 - 723
(Article)
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
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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
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Author keywords: Genetics(clinical), Genetics, Journal Article
ISSN: 0141-8955
(Publisher version, Peer reviewed)