Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.

Détails

ID Serval
serval:BIB_C146D923F75D
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.
Périodique
Journal of Inherited Metabolic Disease
Auteur(s)
Rimella-Le-Huu A., Henry H., Kern I., Hanquinet S., Roulet-Perez E., Newman C.J., Superti-Furga A., Bonafé L., Ballhausen D.
ISSN
0141-8955[linking], 1573-2665[electronic]
Statut éditorial
Publié
Date de publication
2008
Peer-reviewed
Oui
Langue
anglais
Résumé
Congenital disorders of glycosylation (CDG) are a family of multisystem inherited disorders caused by defects in the biosynthesis of N- or O-glycans. Among the many different subtypes of CDG, the defect of a mannosyltransferase encoded by the human ALG3 gene (chromosome 3q27) is known to cause CDG Id. Six patients with CDG Id have been described in the literature so far. We further delineate the clinical, biochemical, neuroradiological and molecular features of CDG Id by reporting an additional patient bearing a novel missense mutation in the ALG3 gene. All patients with CDG Id display a slowly progressive encephalopathy with microcephaly, severe psychomotor retardation and epileptic seizures. They also share some typical dysmorphic features but they do not present the multisystem involvement observed in other CDG syndromes or any biological marker abnormalities. Unusually marked osteopenia is a feature in some patients and may remain undiagnosed until revealed by pathological fractures. Serum transferrin screening for CDG should be extended to all patients with encephalopathy of unknown origin, even in the absence of multisystem involvement.
Pubmed
Création de la notice
24/02/2009 18:19
Dernière modification de la notice
03/03/2018 21:07
Données d'usage