Carnitine palmitoyl transferase deficiency in pregnancy--a case report.
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.
Dreval
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D
Department of Obstetrics and Gynecology, Sackler Faculty of Medicine, Tel Aviv University, Edith Wolfson Medical Center, Israel.
Bernstein
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D
Zakut
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H
D000328:Adult; D001706:Biopsy; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000378:metabolism; D005260:Female; D006801:Humans; D017240:Mitochondrial Myopathies / Q000201:enzymology* / Q000473:pathology; D009215:Myometrium / Q000201:enzymology* / Q000473:pathology; D011247:Pregnancy; D011248:Pregnancy Complications / Q000201:enzymology* / Q000473:pathology
D002334:Carnitine O-Palmitoyltransferase