Challenges in Managing Pregnancy in Patients With Fructose 1, 6-Bisphosphatase Deficiency: A Single-Centre Experience

Area of Science:

• Biochemistry
• Genetics
• Metabolic Disorders

Background:

• Fructose-1,6-bisphosphatase deficiency is a rare inherited metabolic disorder affecting gluconeogenesis.
• It typically causes hypoglycemia and lactic acidosis, exacerbated during pregnancy due to increased fetal glucose demand.
• Managing this condition during pregnancy requires careful monitoring and specialized care.

Purpose of the Study:

• To report on the successful management and outcomes of pregnancies in patients with fructose-1,6-bisphosphatase deficiency.
• To highlight the challenges and strategies for managing co-existing conditions like gestational diabetes in these patients.
• To contribute to the limited literature on pregnancy in rare metabolic disorders.

Main Methods:

• Case series reporting on three patients with fructose-1,6-bisphosphatase deficiency during pregnancy.
• Management involved a multidisciplinary team including obstetricians, maternal-fetal medicine specialists, and metabolic dietitians.
• Close monitoring of maternal and fetal well-being throughout pregnancy, labor, and postpartum.

Main Results:

• All three patients had successful pregnancies and vaginal deliveries.
• Two patients developed gestational diabetes mellitus, one with morbid obesity experiencing severe hypoglycemia and lactic acidosis requiring intensive care, but with full recovery.
• Lactic acidosis occurred postpartum in both patients with gestational diabetes, despite stable blood glucose levels.

Conclusions:

• Pregnancy is achievable in women with fructose-1,6-bisphosphatase deficiency with appropriate multidisciplinary management.
• Managing diabetes in these patients is complex due to the inherent risk of hypoglycemia.
• This case series underscores the importance of specialized care for rare metabolic disorders during pregnancy.