title: 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.
authors.affiliation: Developmental Medicine, Royal Children's Hospital, Melbourne, Australia.
authors.forename: Suzi
authors.initials: S
authors.lastname: Riess
authors.forename: Dinah Susan
authors.initials: DS
authors.lastname: Reddihough
authors.forename: Katherine Brooke
authors.initials: KB
authors.lastname: Howell
authors.forename: Charuta
authors.initials: C
authors.lastname: Dagia
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
authors.forename: Gert
authors.initials: G
authors.lastname: Matthijs
authors.forename: Joy
authors.initials: J
authors.lastname: Yaplito-Lee
mesh_terms: D000293:Adolescent; D000328:Adult; D018981:Congenital Disorders of Glycosylation / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D004721:Endoplasmic Reticulum / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008364:Mannosyltransferases / Q000235:genetics*; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010641:Phenotype; D011859:Radiography; D035781:Siblings
chemical_list: C489947:ALG3 protein, human; D008364:Mannosyltransferases
keywords: Cerebellar hypoplasia; Congenital disorders of glycosylation; Disability; Somnolence