Zhou Shu-Yan
Department of Gastroenterology, Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Ministry of Education Key Laboratory of Child Development and Disorders/Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2023 Feb 15;25(2):223-228. doi: 10.7499/j.issn.1008-8830.2209049.
Phosphomannomutase 2 deficiency is the most common form of N-glycosylation disorders and is also known as phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG). It is an autosomal recessive disease with multi-system involvements and is caused by mutations in the gene (OMIM: 601785), with varying severities in individuals. At present, there is still no specific therapy for PMM2-CDG, and early identification, early diagnosis, and early treatment can effectively prolong the life span of pediatric patients. This article reviews the advances in the diagnosis and treatment of PMM2-CDG.
磷酸甘露糖变位酶2缺乏症是N-糖基化障碍最常见的形式，也被称为磷酸甘露糖变位酶2-先天性糖基化障碍（PMM2-CDG）。它是一种常染色体隐性疾病，累及多系统，由 基因（OMIM：601785）突变引起，个体病情严重程度各异。目前，PMM2-CDG仍无特效治疗方法，早期识别、早期诊断和早期治疗可有效延长患儿寿命。本文综述了PMM2-CDG的诊断和治疗进展。
