Portal de Periódicos da CAPES

The Hereditary Inclusion Body Myopathy Enigma and its Future Therapy

2008; Springer Science+Business Media; Volume: 5; Issue: 4 Linguagem: Inglês

10.1016/j.nurt.2008.07.004

1933-7213

Zohar Argov, Stella Mitrani‐Rosenbaum,

Protein Kinase Regulation and GTPase Signaling

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.