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.
MeSH terms
-
Adult
-
Biopsy
-
Carnitine O-Palmitoyltransferase / deficiency*
-
Carnitine O-Palmitoyltransferase / metabolism
-
Female
-
Humans
-
Mitochondrial Myopathies / enzymology*
-
Mitochondrial Myopathies / pathology
-
Myometrium / enzymology*
-
Myometrium / pathology
-
Pregnancy
-
Pregnancy Complications / enzymology*
-
Pregnancy Complications / pathology
Substances
-
Carnitine O-Palmitoyltransferase