title: The hereditary inclusion body myopathy enigma and its future therapy.
abstract: 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.
authors.affiliation: Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. zohara@ekmd.huji.ac.il
authors.forename: Zohar
authors.initials: Z
authors.lastname: Argov
authors.forename: Stella
authors.initials: S
authors.lastname: Mitrani-Rosenbaum
mesh_terms: D000818:Animals; D002238:Carbohydrate Epimerases / Q000235:genetics / Q000378:metabolism; D006801:Humans; D018979:Myositis, Inclusion Body / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000628:therapy*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics / Q000378:metabolism
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C018765:N-acylmannosamine kinase; D002238:Carbohydrate Epimerases; C100033:UDP acetylglucosamine-2-epimerase