Öncül Ümmühan, Kose Engin, Eminoğlu Fatma Tuba
Department of Pediatric Metabolism, Faculty of Medicine, Ankara University, Ankara, Turkey.
Mol Syndromol. 2022 Feb;13(1):69-74. doi: 10.1159/000517797. Epub 2021 Sep 21.
ALG1-congenital disorder of glycosylation (ALG1-CDG) is an autosomal recessive multisystem disease. We here present a patient with a mild phenotype of ALG1-CDG. A 15-month-old female was referred with hypotonia, failure to thrive, and developmental delay. At 8 months of age, failure to thrive, feeding difficulties and developmental delay became apparent, and an epileptic seizure was observed at 11 months of age. Progressive deterioration and swallowing difficulty were observed. A brain MRI revealed a widening of the cerebrospinal fluid spaces and ventricular system, and decreased protein C, protein S and antithrombin III levels were identified. The isoelectric focusing showed a type 1 pattern. A homozygous c.1076C>T (p.Ser359Leu) variant was found in the gene. CDG should be taken into consideration in patients presenting with unexplained multisystem involvement.
ALG1糖基化先天性疾病（ALG1-CDG）是一种常染色体隐性多系统疾病。我们在此报告一名具有轻度ALG1-CDG表型的患者。一名15个月大的女性因肌张力减退、生长发育迟缓前来就诊。8个月大时，生长发育迟缓、喂养困难和发育迟缓变得明显，11个月大时观察到癫痫发作。观察到病情进行性恶化和吞咽困难。脑部核磁共振成像显示脑脊液间隙和脑室系统增宽，并且检测到蛋白C、蛋白S和抗凝血酶III水平降低。等电聚焦显示为1型模式。在该基因中发现了纯合的c.1076C>T（p.Ser359Leu）变异。对于出现不明原因多系统受累的患者，应考虑到糖基化先天性疾病。
