Department of Medical Genetic, Montréal Children's Hospital, Montréal, Québec, Canada.
Department of Medical Genetic, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024.
Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2-CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence-based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2-CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2-CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2-CDG patients.
磷酸甘露糖变位酶 2 缺乏症（PMM2-CDG）是最常见的先天性 N-糖基化缺陷疾病，由 PMM2 活性缺乏引起。PMM2-CDG 的临床表现和发病年龄在受影响的个体中差异很大，从伴有多系统受累的严重产前表现到仅累及轻微神经系统受累的轻度成年期表现。受影响患者的管理需要多学科方法。本文由不同 CDG 领域的国际专家组成的一个小组对 PMM2-CDG 的文献进行了系统回顾。我们的管理指南是基于现有的循证数据和专家意见制定的。本指南主要针对 PMM2-CDG 涉及的每个系统/器官的临床评估，以及推荐的管理方法。这是对 PMM2-CDG 现有实践的首次系统回顾，也是首次旨在建立一种实用方法来识别、诊断和管理 PMM2-CDG 患者的指南。
