Developmental Medicine, Royal Children's Hospital, Melbourne, Australia.
Mol Genet Metab. 2013 Sep-Oct;110(1-2):170-5. doi: 10.1016/j.ymgme.2013.05.020. Epub 2013 Jun 7.
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.
先天性糖基化障碍 (CDG) 是一类代谢紊乱疾病，具有广泛的生化、分子和临床表型。由于内质网 (ER) 甘露糖基转移酶 VI 缺陷导致的 ALG3-CDG (CDG-Id) 是 CDG-I 中较为少见的类型之一。我们通过分子检测确诊了两名越南同胞患有 ALG3-CDG (CDG-Id)。据我们所知，他们是文献中报道的年龄最大的患者，分别为 15 岁和 21 岁。他们与之前报道的患者具有相似的临床特征，包括面部畸形、严重精神运动发育迟缓、小头畸形、癫痫发作和胃肠道症状。此外，我们的同胞二人还突出了家族内的变异性、ALG3-CDG (CDG-Id) 的自然临床病程以及重新评估未确诊和复杂综合征患者的益处，特别是当他们出现神经功能恶化时。
