Title: ALG3-CDG (CDG-Id): Clinical, biochemical and molecular findings in two siblings
Authors: Riess, Suzi ×
Reddihough, Dinah Susan
Howell, Katherine Brooke
Dagia, Charuta
Jaeken, Jaak
Matthijs, Gert
Yaplito-Lee, Joy #
Issue Date: Sep-2013
Publisher: Academic Press
Series Title: Molecular genetics and metabolism vol:110 issue:1-2 pages:170-175
Article number: S1096-7192(13)00186-8
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.
ISSN: 1096-7192
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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