Deficiência da desidrogenase de 3‐hidroxi‐acil‐coa de cadeia longa no feto e fígado gordo agudo da gravidez

Abstract

Maternal‐foetal interactions are critical determinants of maternal health and perinatal outcome. Liver diseases uniquely related to pregnancy may develop, including acute fatty liver of pregnancy and HELLP (hemolysis, elevated liver enzymes and low platelets) syndrome. Although the etiopathogenesis has not been completely elucidated, these diseases have been associated with foetal fatty oxidation disorders, particularly correlated with foetal defects of long‐chain fatty oxidation. We report a clinical case of a complicated pregnancy with an acute fatty liver of pregnancy and the detection of mutation 1528G>C in the newborn's and both parents’ homozygote. Screening for fatty acid oxidation disorders and specifically long‐chain 3‐hidroxyacyl‐coenzyme‐A‐ dehydrogenase deficiency (LCHAD) should be carried out with newborns from mothers with hepatic complications during pregnancy such as acute fatty liver of pregnancy or severe or recurrent HELLP syndrome.