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Very long-chain acyl-CoA dehydrogenase deficiency is a clinically heterogeneous disease, and as with CPT2 deficiency there are three major phenotypes: a late onset myopathic form, a milder childhood form, usually with hypoketotic hypoglycaemia as the main presenting feature but often with exercise intolerance and rhabdomyolysis as a significant feature particularly in older children and young adults
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[DOI] [PMC free article] [PubMed] [Google Scholar] 218.Ronchi B., Lacetera N., Bernabucci U., Nardone A., Verini Supplizi A
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