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

  • Michel TchanEmail author
  • M. Westbrook
  • G. Wilcox
  • R. Cutler
  • N. Smith
  • R. Penman
  • B. J. G. Strauss
  • B. Wilcken
Case Report
Part of the JIMD Reports book series (JIMD, volume 10)

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.

Keywords

Intellectual Disability Post Partum Maple Syrup Urine Disease Maple Syrup Urine Disease Metabolic Decompensation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Michel Tchan
    • 1
    • 2
    Email author
  • M. Westbrook
    • 1
    • 2
  • G. Wilcox
    • 5
  • R. Cutler
    • 6
  • N. Smith
    • 6
  • R. Penman
    • 5
  • B. J. G. Strauss
    • 5
  • B. Wilcken
    • 3
    • 4
  1. 1.Department of Genetic MedicineWestmead HospitalWestmeadAustralia
  2. 2.Discipline of Genetic Medicine, Sydney Medical SchoolUniversity of SydneySydneyAustralia
  3. 3.Western Sydney Genetics ProgramThe Children’s Hospital at WestmeadSydneyAustralia
  4. 4.Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical SchoolUniversity of SydneySydneyAustralia
  5. 5.Monash University Department of Medicine, Southern Clinical SchoolMonash UniversityClaytonAustralia
  6. 6.Clinical Nutrition & Metabolism UnitMonash Medical CentreClaytonAustralia

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