The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two Patients

Abstract

We describe the management and outcomes of pregnancy in two women affected with Maple syrup urine disease (MSUD). Both patients had classical disease diagnosed in the newborn period and were managed with low-protein diets and supplements, although compliance was moderately poor throughout life. Both pregnancies were complicated by poor compliance and one patient had a metabolic decompensation, which included seizures and profound encephalopathy, at the end of the first trimester. Peri-partum management required a coordinated team approach including a high-calorie and low-protein diet. Both patients had elevated leucine levels in the post-partum period – one due to mastitis and the other due to poor dietary and supplement compliance combined with uterine involution. On later review, leucine had returned to pre-pregnancy levels. Both infants were unaffected and have made normal developmental progress in the subsequent 1 to 2 years.

Competing interests: None declared

Appendices

Author Contributions

Michel Tchan – co-author, analysed data, clinician, guarantor

Mary Westbrook – revised article

Gisela Wilcox – co-author, analysed data, clinician

Rachel Cutler – revised article

Narelle Smith – revised article

Rebecca Penman – revised article

Boyd Strauss – clinician, revised article

Bridget Wilcken – clinician, co-author

Conflict of Interest

The authors declare they have no conflicts of interest.