Carnitine palmitoyl transferase deficiency in pregnancy--a case report.

Dreval, D; Bernstein, D; Zakut, H · Am J Obstet Gynecol · 1994

case_report · Level V

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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.

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