Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?

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• 作者：Olimpia Musumeci (1)
  Stefen Brady (2)
  Carmelo Rodolico (1)
  Annamaria Ciranni (1)
  Federica Montagnese (1)
  M’hammed Aguennouz (1)
  Richard Kirk (3)
  Elizabeth Allen (3)
  Richard Godfrey (2) (4)
  Sara Romeo (1)
  Elaine Murphy (2)
  Shamima Rahman (5)
  Ros Quinlivan (2) (5)
  Antonio Toscano (1)
  
• 关键词：Glycogenosis ; Metabolic myopathy ; Rhabdomyolysis ; Muscle β ; enolase
• 刊名：Journal of Neurology
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：261
• 期：12
• 页码：2424-2428
• 全文大小：1,038 KB
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• 作者单位：Olimpia Musumeci (1)
  Stefen Brady (2)
  Carmelo Rodolico (1)
  Annamaria Ciranni (1)
  Federica Montagnese (1)
  M’hammed Aguennouz (1)
  Richard Kirk (3)
  Elizabeth Allen (3)
  Richard Godfrey (2) (4)
  Sara Romeo (1)
  Elaine Murphy (2)
  Shamima Rahman (5)
  Ros Quinlivan (2) (5)
  Antonio Toscano (1)
  
  1. Department of Neurosciences, University of Messina, via Consolare Valeria, 98125, Messina, Italy
  2. MRC centre for Neuromuscular Disease, UCL Institute of Neurology, Queen Square, London, UK
  3. Sheffield Diagnostic Genetics Service, Sheffield Children’s NHS Foundation Trust, Sheffield, UK
  4. Centre for Sports Medicine and Human Performance, Brunel University, Uxbridge, UK
  5. UCL Institute of Child Health, London, UK
  
• ISSN：1432-1459

文摘

Muscle β-enolase deficiency is a very rare inherited metabolic myopathy caused by an enzymatic defect of distal glycolysis. So far, the condition has been described in only one patient with mutations in ENO3 in a compound heterozygous state who presented with exercise intolerance, post-exercise myalgia and mild hyperCKemia but no pigmenturia. We describe two men, one Italian and one Turkish, with consanguineous parents, who complained of several episodes of intense myalgia, cramps, generalized muscle tenderness and dark urine. No other family members reported similar symptoms. In both cases, there was a very mild rise in lactate during a forearm exercise test. Muscle biopsy showed minimal changes with no lipid or glycogen accumulation. Biochemical studies on muscle tissue demonstrated a marked reduction of muscle β-enolase activity (20 and 10?% of residual activity, respectively). Molecular genetic analysis of ENO3 gene revealed two novel homozygous missense mutations, (p.Asn151Ser and p.Glu187Lys). Both mutations segregated as expected in the two families. Although quite rare, muscle β-enolase deficiency should be considered in the differential diagnosis of patients presenting with recurrent rhabdomyolysis. It may present also with a more severe phenotype than previously thought.