Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation?
Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation?
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作者：
Berry GT;Freeze HH;Morava E
达塔·亚历山大等人。对 38 名患者中因 ALG13 基因变异导致的 X 连锁婴儿发病相关表型进行了出色的综述。 1 工作内容相当全面。然而，这种遗传性脑病性癫痫与先天性糖基化障碍 (CDG) 之间的联系仍然难以捉摸。ALG13-CDG 是一种 X 连锁先天性代谢缺陷，表现为多系统表型和严重的中枢神经系统症状，主要见于女孩，只有少数男孩。这对于 X 连锁疾病来说是令人惊讶的。此外，几乎所有患者的转铁蛋白糖基化均正常，这是 CDG 的常规生化筛查测试。 2 某些 CDG（例如本例）中不存在分泌性聚糖异常的情况尚未完全清楚。 3
Datta Alexandre et al. have generated an excellent review of the phenotype associated with X-linked, infantile onset disease due to ALG13 gene variants in 38 patients. 1 The work is quite comprehensive. However, the link between this genetic encephalopathic epilepsy and a congenital disorder of glycosylation (CDG) remains elusive.ALG13-CDG is an X-linked inborn error of metabolism, presenting with a multisystem phenotype and severe central nervous system symptoms primarily in girls and only a few boys. This is surprising for an X-linked disorder. Also, nearly all patients have normal transferrin glycosylation, which is the routinely used biochemical screening test for CDGs. 2 The absence of secretory glycan abnormalities in some CDGs, like this one, is not yet fully understood. 3
影响因子：
4.2
作者：
Ng BG;Eklund EA;Shiryaev SA;Dong YY;Abbott MA;Asteggiano C;Bamshad MJ;Barr E;Bernstein JA;Chelakkadan S;Christodoulou J;Chung WK;Ciliberto MA;Cousin J;Gardiner F;Ghosh S;Graf WD;Grunewald S;Hammond K;Hauser NS;Hoganson GE;Houck KM;Kohler JN;Morava E;Larson AA;Liu P;Madathil S;McCormack C;Meeks NJL;Miller R;Monaghan KG;Nickerson DA;Palculict TB;Papazoglu GM;Pletcher BA;Scheffer IE;Schenone AB;Schnur RE;Si Y;Rowe LJ;Serrano Russi AH;Russo RS;Thabet F;Tuite A;Villanueva MM;Wang RY;Webster RI;Wilson D;Zalan A;Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG);Wolfe LA;Rosenfeld JA;Rhodes L;Freeze HH
通讯作者：
Freeze HH
影响因子：
4.2
作者：
Ferreira CR;Altassan R;Marques-Da-Silva D;Francisco R;Jaeken J;Morava E
通讯作者：
Morava E