Maple Syrup Urine Disease - A Successful Pregnancy and Delivery

Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder affecting branched-chain amino acids.  There are less than a dozen documented cases of successful pregnancies of women with MSUD worldwide. This case study describes the challenges of caring for a woman with a disease that is rarely seen in obstetrics and the inter-disciplinary care that was required for her to have a successful pregnancy and delivery. The case study will provide education on MSUD, outline a plan of care intended to prevent metabolic decompensation for an obstetrical patient with MSUD and ensure the health of both mother and baby. 

Case: This case study reviews the patient course from admission for induction of labor to discharge home with her baby. She is a 27 yo female, G1P0 with MSUD with an expected inpatient stay of 10-14 days to closely monitor and adjust her amino acid levels.  Multiple inter-disciplinary meetings were conducted to review labs and metabolic and nutritional status both prior to her arrival and daily during her admission.  Involved specialities were nursing, obstetrics, metabolic genetics, nutrition, pharmacy, IV therapy, laboratory services and social services. Care included amino acids level drawn daily and couriered to another facility; a PICC line placed prior to admission;  close monitoring of insulin levels and fluids,  daily weights, frequent urinalysis for ketones, specialized TPN, daily adjusted nutrition, specialized testing of the newborn and continued close monitoring. This patient did very well until day 10 when her leucine levels started to rise and she had to be restarted on TPN.  She was eventually discharged home on her normal diet.  Her baby required admission to the level II nursery for hypoglycemia which resolved on day of life 4, and was discharged home with her parents. 

Conclusion: There are very few cases of pregnancies of women with MSUD in the literature. This meant that providing care for a woman with MSUD during labor and delivery and postpartum was challenging.  An in-depth look at the disease, understanding metabolic control, and having a mulit-disciplinary approach with clear communication helped our team care for this patient and see her through to a safe delivery of a healthy baby. 

Keywords: maple syrup urine disease, pregnancy, postpartum.