磷酸甘露糖变位酶2缺乏症的诊治进展

doi:10.7499/j.issn.1008-8830.2209049

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Abstract 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 PMM2 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.

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	ZHOU Shu-Yan

Key words： Phosphomannomutase 2 deficiency Congenital disorder of glycosylation PMM2 gene Gene mutation

Received: 10 September 2022

Cite this article:

ZHOU Shu-Yan. Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency[J]. CJCP, 2023, 25(2): 223-228.

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http://www.zgddek.com/EN/10.7499/j.issn.1008-8830.2209049 OR http://www.zgddek.com/EN/Y2023/V25/I2/223

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