Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence.
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.
Miyajima
H
H
First Department of Medicine, Hamamatsu University School of Medicine, Japan.
Orii
K E
KE
Shindo
Y
Y
Hashimoto
T
T
Shinka
T
T
Kuhara
T
T
Matsumoto
I
I
Shimizu
H
H
Kaneko
E
E
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D000293:Adolescent; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000201:enzymology*; D009097:Multienzyme Complexes / Q000172:deficiency*; D018482:Muscle, Skeletal / Q000473:pathology; D009212:Myoglobinuria / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D012206:Rhabdomyolysis / Q000473:pathology
D009097:Multienzyme Complexes; D015094:3-Hydroxyacyl CoA Dehydrogenases