[Pregnancy in metabolic diseases with hepatic expression: what risks for the mother and the child?]

Inborn errors of metabolism (IEM) are rare diseases caused by mutations in genes encoding enzymes or carriers. Qualitative or quantitative protein deficiency induces both an accumulation of precursor metabolites and a lack of products downstream of the blockade. Pregnancy in patients with IEM is a condition likely to promote metabolic decompensation. In this review, we presented liver symptoms described during pregnancy in a context of hepatic IEM. In particular, we detailed clinical and biological abnormalities specifically occurring in tyrosinemia type I, Wilson disease, and main urea cycle defects. In the case of hepatic IEM, depending on the deficit, pregnant women have an increased risk of pre-eclampsia and HELLP syndrome, as well as hyperammonemia. Wilson disease, and principal urea cycle defects. Multidisciplinary consultation is essential for the optimal management of pregnant women with IEM as well as newborns.