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. 2008 Oct 1;5(4):633–637. doi: 10.1016/j.nurt.2008.07.004

The hereditary inclusion body myopathy enigma and its future therapy

Zohar Argov 1,✉, Stella Mitrani-Rosenbaum 2
PMCID: PMC4514692  PMID: 19019317

Summary

Hereditary inclusion body myopathy (HIBM) is a genetic muscle disease due to mutations in the gene encoding the enzyme complex UDP-N-acetylglucosamine 2 epimerase-N-acetylmannosamine kinase (GNE), which catalyzes the rate-limiting step in sialic acid production. The review describes some of the disease features that may be relevant for further understanding of the metabolic impairment of HIBM and its future therapy. It also addresses the biochemical basis behind the substrate supplementation therapy designed for this condition.

Key Words: Hereditary inclusion body myopathy, sialic acid, GNE gene, distal myopathy

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