Maple syrup urine disease (MSUD) is an autosomal metabolic condition that can cause significant morbidity in pregnant women and their infants. Advances in nutritional management mean more mothers with congenital metabolic disorders are becoming pregnant, and presenting challenges in obstetric care. In particular, the increase in protein requirements during pregnancy and metabolic stress of childbirth require careful planning and caloric titration. We report a case of a second time mother with MSUD and demonstrate a treatment scaffold to help achieve successful pregnancies for women with this and similar conditions.
Keywords: Obstetrics; maple syrup urine disease; metabolic disease; pregnancy.