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Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.

AuthorsD M Turnbull, K Bartlett, D L Stevens, K G Alberti, G J Gibson, M A Johnson, A J McCulloch, H S Sherratt
JournalThe New England journal of medicine (N Engl J Med) Vol. 311 Issue 19 Pg. 1232-6 (Nov 08 1984) ISSN: 0028-4793 [Print] United States
PMID6493275 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Ketone Bodies
  • Acyl-CoA Dehydrogenases
  • Butyryl-CoA Dehydrogenase
  • Carnitine
Topics
  • Acyl-CoA Dehydrogenases (deficiency)
  • Butyryl-CoA Dehydrogenase
  • Carnitine (deficiency, urine)
  • Fasting
  • Female
  • Humans
  • Ketone Bodies (metabolism)
  • Lipid Metabolism, Inborn Errors (metabolism, pathology)
  • Middle Aged
  • Mitochondria, Muscle (enzymology)
  • Muscles (metabolism, ultrastructure)
  • Muscular Diseases (metabolism, pathology)
  • Physical Exertion
  • Respiration

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