Article
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.
Molecular genetics and metabolism - 1 Sept 2017
Xu Xin, Wang Amy Q, Latham Lea L, Celeste Frank, Ciccone Carla, Malicdan May Christine, Goldspiel Barry, Terse Pramod, Cradock James, Yang Nora, Yorke Selwyn, McKew John C, Gahl William A, Huizing Marjan, Carrillo Nuria
Abstract excerpt
GNE myopathy is a rare, autosomal recessive, inborn error of sialic acid metabolism, caused by mutations in GNE, the gene encoding UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase. The disease manifests as an adult-onset myopathy characterized by progressive skeletal muscle weakness and atrophy. There is no medical therapy available for this debilitating disease. Hyposialylation of muscle...
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