Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency

ZHOU Shu-Yan

doi:10.7499/j.issn.1008-8830.2209049

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Chinese Journal of Contemporary Pediatrics ›› 2023, Vol. 25 ›› Issue (2) : 223-228. DOI: 10.7499/j.issn.1008-8830.2209049

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Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency

ZHOU Shu-Yan

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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.

Key words

Phosphomannomutase 2 deficiency / Congenital disorder of glycosylation / PMM2 gene / Gene mutation

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ZHOU Shu-Yan. Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency[J]. Chinese Journal of Contemporary Pediatrics. 2023, 25(2): 223-228 https://doi.org/10.7499/j.issn.1008-8830.2209049

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