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ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Author(s) -
Morava Eva,
Tiemes Vera,
Thiel Christian,
Seta Nathalie,
Lonlay Pascale,
Klerk Hans,
Mulder Margot,
RubioGozalbo Estela,
Visser Gepke,
Hasselt Peter,
Horovitz Dafne D. G.,
Souza Carolina Fischinger Moura,
Schwartz Ida V. D.,
Green Andrew,
AlOwain Mohammed,
Uziel Graciella,
Sigaudy Sabine,
Chabrol Brigitte,
Spronsen FrancJan,
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.
Publication year - 2016
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-016-9945-x
Subject(s) - hypotonia , medicine , brachydactyly , epilepsy , pediatrics , ataxia , failure to thrive , weakness , surgery , psychiatry , short stature
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 <50 % of cases, without spontaneous bleedings. Facial dysmorphism was rare, but seven patients showed missing phalanges and brachydactyly. Cyclic behavioral change, with autistic features and depressive episodes, was one of the most significant complaints. Eleven children died before the age of 4 years due to protein losing enteropathy (PLE), sepsis, or seizures. The oldest patient was a 40 year‐old Dutch woman. The most common pathogenic protein alterations were p.A333V and p.I299Del, without any clear genotype–phenotype correlation. Discussion ALG6‐CDG has been now described in 89 patients, making it the second most common type of CDG. It has a recognizable phenotype and a primary neurologic presentation.