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.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Carbohydrate Epimerases / genetics
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Carbohydrate Epimerases / metabolism
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Humans
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Myositis, Inclusion Body / diagnosis
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Myositis, Inclusion Body / genetics*
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Myositis, Inclusion Body / pathology
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Myositis, Inclusion Body / therapy*
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Phosphotransferases (Alcohol Group Acceptor) / genetics
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Phosphotransferases (Alcohol Group Acceptor) / metabolism
Substances
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Phosphotransferases (Alcohol Group Acceptor)
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N-acylmannosamine kinase
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Carbohydrate Epimerases
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UDP acetylglucosamine-2-epimerase