{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T08:13:47Z","timestamp":1769501627896,"version":"3.49.0"},"reference-count":5,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,9,3]],"date-time":"2019-09-03T00:00:00Z","timestamp":1567468800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Glycogen storage disease type XIII (GSDXIII) is a very rare inherited metabolic myopathy characterized by autosomal\u2010recessive mutations in the <jats:italic>ENO3<\/jats:italic> gene resulting in muscle \u03b2\u2010enolase deficiency, an enzymatic defect of the distal part of glycolysis. Enzyme kinetic studies of two patients presenting with exertion intolerance and recurrent rhabdomyolysis are reported. Next generation sequencing confirmed patient 1 was homozygous for p.E187K in <jats:italic>ENO3<\/jats:italic>, while patient 2 was homozygous for p.C357Y. <jats:italic>ENO3<\/jats:italic> variants pathogenicity was confirmed by functional studies in skeletal muscle. p.E187K caused extremely low total enolase activity. p.C357Y was associated with a higher level of residual activity but kinetic studies showed a lower maximum work rate (<jats:italic>V<\/jats:italic><jats:sub>max<\/jats:sub>). This study illustrates that GSDXIII may be caused by either null mutations leading to \u03b2\u2010enolase deficiency or by mutations that alter the enzyme's kinetic profile. This study highlights the importance of carrying out functional studies as part of the diagnostic process following the identification of variants with next generation sequencing.<\/jats:p>","DOI":"10.1002\/jmd2.12070","type":"journal-article","created":{"date-parts":[[2019,9,3]],"date-time":"2019-09-03T15:46:26Z","timestamp":1567525586000},"page":"40-43","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["The need for biochemical testing in beta\u2010enolase deficiency in the genomic era"],"prefix":"10.1002","volume":"50","author":[{"given":"Ralph","family":"Wigley","sequence":"first","affiliation":[{"name":"Enzyme Laboratory, Department of Chemical Pathology, Cameilia Botnar Laboratories Great Ormond Street Hospital for Sick Children  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata S.","family":"Scalco","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery  London UK"},{"name":"CAPES Foundation Ministry of Education  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice R.","family":"Gardiner","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Godfrey","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery  London UK"},{"name":"Centre for Human Performance, Exercise and Rehabilitation Brunel University London  Uxbridge 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