MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY ASSOCIATED WITH RECURRENT MYOGLOBINURIA IN ADOLESCENCE

A 23-year-old man with recurrent myoglobinuria had low muscle-free car nitine levels and deficient fasting ketogenesis. Urinary organic acid analysis showed large amounts of C-6-C-14 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 act ivity in fibroblasts. On immunoblot analysis, the TP content of his fi broblasts was less than 2% that of the control cells. TP deficiency ca n be a life-threatening disorder with early infantile onset, but it ca n also present in adolescence with recurrent myoglobinuria.