Investigation of carnitine deficiency and expression of the transporting proteins involved during normal gestation

Marinopoulos S1, Pappa K1, Drakakis P1, Anagnou N2, Antsaklis A1

11st Department of Obstetrics and Gynecology, University of Athens, Alexandra hospital, Athens, Greece
2Biology Laboratory, Medical School, University of Athens, Athens, Greece

Correspondence: Marinopoulos S, 86 Vasilissis Sofias Avenue, GR-11528, Athens, Greece. E-mail:


Introduction: Carnitine maintains a crucial role in the process of transporting long chain fatty acids, in order to oxidize and provide the human body with sufficient energy. Plasma carnitine deficiency presents as a metabolic disorder. During pregnancy, total plasma carnitine gradually decreases to the levels of patients with known carnitine deficiency, but without any clinical symptoms. Aim: to thoroughly investigate carnitine biosynthesis in pregnant women. Material and Methods: The population of our study consisted of healthy pregnant women and women of reproductive age who were surgically treated for a benign gynecological condition. 4-N-trimethylaminobutyrate, L-carnitine, acyl-carnitines, 3-hydroxy-6-N-trimethyl-lysine (HTML) and 6-N-trimethyl-lysine (TML) were measured in maternal plasma, in arterial and venous blood from the umbilical cord, in amniotic fluid and maternal urine samples. Results: Values of L-carnitine and its precursor molecule 4-N-trimethylaminobutyrate were statistically significantly higher in both plasma and urine samples of pregnant women. This suggests unrestricted transportation of total carnitine towards amniotic fluid and urine, despite its low plasma levels. Conclusions: Only specific carnitine fractions appear reduced in pregnancy, suggesting possible metabolic needs for those that the fetus is unable to compose. This is of great interest for premature neonates, for which supplementary carnitine fractions’ administration is beneficial, improving fetal body weight and respiratory capacity.

Keywords: carnitine deficiency, gestation

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