Abstract
Maple Syrup Urine Disease (MSUD) is an inherited metabolic condition, with an incidence of approximately 1/185,000 infants worldwide. We discuss the case of MSUD and the management challenges that are posed by this rare condition.
A 31 year old woman presented for Maternal Medicine review in the early first trimester of her first pregnancy. She had an infant diagnosis of MSUD, which also affected two of her female siblings. She had previously attended for pre-conceptual counselling with obstetrics, metabolic medicine and anaesthesiology. Her pregnancy was complicated by hyperemesis gravidarum, posing a risk of metabolic decompensation. Dietetic input was essential in the successful management of this. Throughout pregnancy, she had frequent metabolic and antenatal visits. A male infant was delivered at xx weeks gestation owing to poor maternal weight gain and a fetus that was small for gestational age, who was not affected by MSUD.
Keywords: Maple Syrup Urine Disease (MSUD); Pregnancy; Branched Chain Amino Acid (BCAA)
References
- Maple syrup urine disease | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program [Internet]. Rarediseases.info.nih.gov. (2021).
- Maple Syrup Urine Disease (MSUD) [Internet]. Cleveland Clinic (2021).
- Xu J., et al. “Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders”. International Journal of Molecular Sciences20 (2020): 7490.
- MSUD (maple syrup urine disease) - newbornscreening.info [Internet]. Newbornscreening.info (2021).
- Grünert S., et al. “Successful pregnancy in maple syrup urine disease: a case report and review of the literature”. Nutrition Journal1 (2018): 51.
- Wessel A., et al. “Management of a woman with maple syrup urine disease during pregnancy, delivery, and lactation”. Journal of Parenteral and Enteral Nutrition 7 (2015): 875-879.
- Nutrition Management Guidelines for MSUD | Southeast Regional Genetics Network [Internet]. Southeastgenetics.org (2021).
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- Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Clinical Practice Guidelines [Internet]. Guideline Central (2021).
- Heiber S., et al. “Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case Report”. JIMD Reports 21 (2015): 103-107.
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