ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
J Inherit Metab Dis
; 39(5): 713-723, 2016 09.
Article
en En
| MEDLINE
| ID: mdl-27287710
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 <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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Ataxia
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Deformidades Congénitas de las Extremidades
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Debilidad Muscular
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Trastornos Congénitos de Glicosilación
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Epilepsia
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Glucosiltransferasas
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Proteínas de la Membrana
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Trastornos Mentales
Tipo de estudio:
Diagnostic_studies
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Observational_studies
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Risk_factors_studies
Límite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Año:
2016
Tipo del documento:
Article