[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].

Abstract excerpt

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...

Topics

• Child
• Mutation
• Humans
• Congenital Disorders of Glycosylation
• Phosphotransferases (Phosphomutases)