Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation

Abstract

Maple syrup urine disease (MSUD) is an inherited disorder of metabolism of the branched-chain amino acids leucine, isoleucine, and valine. Complications of acute elevation in plasma leucine include ketoacidosis and risk of cerebral edema, which can be fatal. Individuals with MSUD are at risk of metabolic crisis throughout life, especially at times of physiological stress. We present a case of successful management of a woman with MSUD through pregnancy, delivery, postpartum, and lactation, including nutrition therapy using modified parenteral nutrition.