Glycation Interferes with the Activity of the Bi-Functional UDP--Acetylglucosamine 2-Epimerase/-Acetyl-mannosamine Kinase (GNE).

Mutations in the gene coding for the bi-functional UDP--acetylglucosamine 2-epimerase/-acetylmannosamine kinase (GNE), the key enzyme of the sialic acid biosynthesis, are responsible for autosomal-recessive GNE myopathy (GNEM). GNEM is an adult-onset disease with a yet unknown exact pathophysiology. Since the protein appears to work adequately for a certain period of time even though the mutation is already present, other effects appear to influence the onset and progression of the disease.