ALG3-CDG (CDG-Id): Clinical, biochemical and molecular findings in two siblings
ALG3-CDG (CDG-Id): Clinical, biochemical and molecular findings in two siblings
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DOI：
10.1016/j.ymgme.2013.05.020
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发表时间：
2013-09-01
影响因子：
3.8
通讯作者：
Yaplito-Lee, Joy
中科院分区：
文献类型：
--
作者：
Riess, Suzi;Reddihough, Dinah Susan;Yaplito-Lee, Joy
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 21 years. 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. Crown Copyright (C) 2013 Published by Elsevier Inc. All rights reserved.
