Metabolic management of a successful pregnancy and postpartum complications in fructose-1,6-bisphosphatase deficiency.

Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare, inborn error of metabolism, that causes hypoglycemia and lactic acidosis in response to inadequate glucose intake and/or high intakes of fructose, sucrose, or sorbitol. Pregnancy in women with FBPase deficiency puts them at high risk for metabolic decompensation due to increased glucose demands from the growing fetus. Here we report a 31-year-old primipara who was treated starting at 14 weeks gestation with a diet high in complex carbohydrates and low in fructose, sucrose, and sorbitol and close monitoring of glucose levels throughout her pregnancy.

First reported case of pregnancy in a patient with ornithine aminotransferase deficiency.

Ornithine aminotransferase deficiency is a rare autosomalrecessive human inborn error of the metabolism resulting in hyperornithinemia and progressive chorioretinal degeneration (gyrate atrophy) with blindness. There are few reports in the literature and none, to our knowledge, that address this condition during pregnancy. We report on a novel case of ornithine aminotransferase deficiency during pregnancy that was managed actively with arginine and protein restriction with serial amino acid and fetal growth monitoring, resulting in an uncomplicated term live birth.

Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy.

Women with hyperphenylalaninemia are at risk of having offspring affected with the maternal phenylketonuria syndrome. Here we analyze the effect of the intervention of a nutritionist on plasma phenylalanine control in Maternal Hyperphenylalaninemia. We analyzed a retrospective cohort of 35 completed pregnancies in 20 women with Maternal Hyperphenylalaninemia who visited the metabolic nutritionist during the pregnancy to achieve metabolic control.