Successful pregnancy in maple syrup urine disease: a case report and review of the literature

Nutrition Journal
Sarah Catharina GrünertUte Spiekerkoetter

Abstract

Maple syrup urine disease (MSUD) is an autosomal recessive disorder of branched-chain amino acid metabolism. Patients with MSUD are at risk of life-threatening metabolic decompensations with ketoacidosis and encephalopathy. These episodes are often triggered by physiological stress. Only few cases of pregnancies in MSUD mothers have been reported so far. We present the favorable outcome of a pregnancy in a woman with classical MSUD. She presented in the metabolic outpatient clinic in week 7 of gestation. Branched-chain amino acid concentrations were measured at least weekly to adjust dietary leucine intake. Despite excellent compliance, leucine concentrations frequently exceeded the target value of < 300 μmol/L during the first trimester. From the second trimester until delivery, protein and leucine intake increased continuously to about threefold compared to pre-pregnancy values. To maximize patient safety during delivery and the postpartum period, a detailed plan including peripartal infusion therapy, dietary recommendations and monitoring parameters was developed. Primary Caesarean section was performed in week 38 of gestation, and the patient gave birth to a healthy girl. Lactation was successfully implemented. Leucine leve...Continue Reading

References

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Feb 28, 2015·JIMD Reports·Stefanie HeiberMatthias Baumgartner
May 10, 2017·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·James BrownRoshini Nayyar

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Citations

Dec 6, 2019·Journal of Pediatric Endocrinology & Metabolism : JPEM·Penelope D Manta-VogliYannis L Loukas
Feb 9, 2021·Molecular Genetics and Metabolism Reports·Chika TakanoIchiro Morioka
Aug 15, 2021·International Journal of Obstetric Anesthesia·L HughesA Doherty

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BETA
Cesaerean section

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