n-acetyl-D-mannosamine monohydrate

N-acetyl-D-mannosamine monohydrate (ManNAc) is a naturally occurring, uncharged monosaccharide and small molecule being investigated as an orphan drug for the treatment of GNE myopathy (also known as hereditary inclusion body myopathy, Nonaka myopathy, or distal myopathy with rimmed vacuoles) and certain kidney disorders (such as primary podocytopathies, including focal segmental glomerulosclerosis). GNE myopathy is a rare autosomal recessive muscle disorder caused by biallelic mutations in the GNE gene, which encodes the bifunctional enzyme responsible for the rate-limiting step of intracellular sialic acid biosynthesis. ManNAc acts as the first committed precursor in the biosynthesis of N-acetylneuraminic acid (Neu5Ac, sialic acid), thereby bypassing the defective GNE enzyme to restore sialylation of hyposialylated muscle glycoproteins and glomerular proteins. The drug is administered orally and has been evaluated in Phase 1, Phase 2, and Phase 3 clinical trials.

Other names

N-acetyl-D-mannosamine monohydrateN-acetylmannosamine monohydrateManNAcN-acetyl-D-mannosamineN-acetylmannosamineD-ManNAc2-acetamido-2-deoxy-D-mannose