Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence
1997; Lippincott Williams & Wilkins; Volume: 49; Issue: 3 Linguagem: Inglês
10.1212/wnl.49.3.833
ISSN1526-632X
AutoresHiroaki Miyajima, Kenji E. Orii, Yasuko Shindo, Tomoyo Hashimoto, Toshikatsu Shinka, Tomiko Kuhara, I. Matsumoto, Hideki Shimizu, Eizō Kaneko,
Tópico(s)Genetics and Neurodevelopmental Disorders
ResumoA 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.
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