The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two Patients
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.
KeywordsIntellectual Disability Post Partum Maple Syrup Urine Disease Maple Syrup Urine Disease Metabolic Decompensation
- Nobukuni Y, Mitsubuchi H, Akaboshi I et al (1991) Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease. J Clin Invest 87(5):1862–1866PubMedCrossRefGoogle Scholar
- Strauss KA, Puffenberger EG, Holmes Morton D (2009). “Maple Syrup Urine Disease.” GeneReviews from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=msud