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• W2073828305 abstract "A severe muscle enolase deficiency, with 5% of residual activity, was detected in a 47-year-old man affected with exercise intolerance and myalgias. No rise of serum lactate was observed with the ischemic forearm exercise. Ultrastructural analysis showed focal sarcoplasmic accumulation of glycogen β particles. The enzyme enolase catalyzes the interconversion of 2-phosphoglycerate and phosphoenolpyruvate. In adult human muscle, over 90% of enolase activity is accounted for by the β-enolase subunit, the protein product of the ENO3 gene. The β-enolase protein was dramatically reduced in the muscle of our patient, by both immunohistochemistry and immunoblotting, while α-enolase was normally represented. The ENO3 gene of our patient carries two heterozygous missense mutations affecting highly conserved amino acid residues: a G467A transition changing a glycine residue at position 156 to aspartate, in close proximity to the catalytic site, and a G1121A transition changing a glycine to glutamate at position 374. These mutations were probably inherited as autosomal recessive traits since the mother was heterozygous for the G467A and a sister was heterozygous for the G1121A transition. Our data suggest that ENO3 mutations result in decreased stability of mutant β-enolase. Muscle β-enolase deficiency should be considered in the differential diagnosis of metabolic myopathies due to inherited defects of distal glycolysis." @default.
• W2073828305 created "2016-06-24" @default.
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• W2073828305 date "2001-01-01" @default.
• W2073828305 modified "2023-10-17" @default.
• W2073828305 title "?-enolase deficiency, a new metabolic myopathy of distal glycolysis" @default.
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• W2073828305 doi "https://doi.org/10.1002/ana.1095" @default.
• W2073828305 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11506403" @default.
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