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

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Serval ID
serval:BIB_C146D923F75D
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.
Journal
Journal of Inherited Metabolic Disease
Author(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]
Publication state
Published
Issued date
2008
Peer-reviewed
Oui
Language
english
Abstract
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
Open Access
Yes
Create date
24/02/2009 18:19
Last modification date
01/10/2019 7:19
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