Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence

Neurology. 1997 Sep;49(3):833-7. doi: 10.1212/wnl.49.3.833.


A 23-year-old man with recurrent myoglobinuria had low muscle-free carnitine levels and deficient fasting ketogenesis. Urinary organic acid analysis showed large amounts of C6-C14 3-hydroxydicarboxylic acids. Mitochondrial trifunctional protein (TP), harboring long-chain enoyl-coenzyme A (CoA) hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain 3-ketoacyl-CoA thiolase showed markedly decreased activity in fibroblasts. On immunoblot analysis, the TP content of his fibroblasts was less than 2% that of the control cells. TP deficiency can be a life-threatening disorder with early infantile onset, but it can also present in adolescence with recurrent myoglobinuria.

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases / deficiency*
  • Adolescent
  • Fibroblasts / enzymology
  • Humans
  • Male
  • Mitochondria / enzymology*
  • Multienzyme Complexes / deficiency*
  • Muscle, Skeletal / pathology
  • Myoglobinuria / diagnosis*
  • Myoglobinuria / enzymology
  • Myoglobinuria / pathology
  • Rhabdomyolysis / pathology


  • Multienzyme Complexes
  • 3-Hydroxyacyl CoA Dehydrogenases