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ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings.

Abstract：

:Congenital disorders of glycosylation (CDG) represent an expanding family of metabolic disorders with a wide range of biochemical, molecular and clinical phenotypes. ALG3-CDG (CDG-Id), due to a defect in endoplasmic reticulum (ER) mannosyltransferase VI, is one of the less common types of CDG-I. We describe two Vietnamese siblings with confirmed ALG3-CDG (CDG-Id) by molecular testing. As far as we are aware, they are the oldest reported patients in the literature at 15 and 21years. They share similar clinical features with previously reported patients including facial dysmorphism, severe psychomotor retardation, microcephaly, seizures, and gastrointestinal symptoms. Furthermore, our sibling pair highlights the intrafamilial variability, the natural clinical course of ALG3-CDG (CDG-Id) and the benefit of reassessing patients with undiagnosed and complex syndromes, particularly when they present with neurological deterioration.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Riess S,Reddihough DS,Howell KB,Dagia C,Jaeken J,Matthijs G,Yaplito-Lee J

doi

10.1016/j.ymgme.2013.05.020

keywords:

["Cerebellar hypoplasia","Congenital disorders of glycosylation","Disability","Somnolence"]

subject

Has Abstract

pub_date

2013-09-01 00:00:00

pages

170-5

issue

1-2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(13)00186-8

journal_volume

110

pub_type

杂志文章

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