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Carnitine palmitoyl transferase deficiency in pregnancy--a case report
D Dreval1, D Bernstein, H Zakut
1Department of Obstetrics and Gynecology, Sackler Faculty of Medicine, Tel Aviv University, Edith Wolfson Medical Center, Israel.
American Journal of Obstetrics and Gynecology
|May 1, 1994
Abstract:
Carnitine palmitoyl transferase deficiency is one of the mitochondrial myopathies characterized by weakness, exercise intolerance, and myoglobinuria after prolonged exercise. This is the first case report concerning a pregnant woman with carnitine palmitoyl transferase deficiency that was also proved by the decrease of carnitine palmitoyl transferase activity in uterine myometrium biopsy.