Mannose phosphate isomerase‐congenital disorder of glycosylation (MPI‐CDG) deficiency is a rare subtype of congenital disorders of protein N ‐glycosylation. It is characterised by deficiency of MPI caused by pathogenic variants in MPI gene. The manifestation of MPI‐CDG is different from other CDGs as the patients suffer dominantly from gastrointestinal and hepatic involvement whereas they usually do not present intellectual disability or neurological impairment. It is also one of the few treatable subtypes of CDGs with proven effect of oral mannose. This article covers a complex review of the literature and recommendations for the management of MPI‐CDG with an emphasis on the clinical aspect of the disease. A team of international experts elaborated summaries and recommendations for diagnostics, differential diagnosis, management, and treatment of each system/organ involvement based on evidence‐based data and experts' opinions. Those guidelines also reveal more questions about MPI‐CDG which need to be further studied.

中文翻译：

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磷酸甘露糖异构酶-先天性糖基化障碍的诊断和治疗共识指南。

磷酸甘露糖异构酶-先天性糖基化障碍 (MPI-CDG) 缺乏症是蛋白质N-糖基化先天性障碍的一种罕见亚型。它的特点是MPI的缺乏所引起的致病突变MPI基因。MPI-CDG 的表现与其他 CDG 不同，因为患者主要受胃肠道和肝脏受累，而通常没有智力障碍或神经功能障碍。它也是为数不多的具有口服甘露糖效果的可治疗 CDG 亚型之一。本文涵盖了对 MPI-CDG 管理的文献和建议的复杂回顾，重点是该疾病的临床方面。一个国际专家团队根据循证数据和专家意见，详细阐述了每个系统/器官受累的诊断、鉴别诊断、管理和治疗的总结和建议。这些指南还揭示了有关 MPI-CDG 的更多问题，需要进一步研究。