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Successful pregnancy in a woman with maple syrup urine disease: case report


Heiber, Stefanie; Zulewski, Henryk; Zaugg, Marianne; Kiss, Caroline; Baumgartner, Matthias (2015). Successful pregnancy in a woman with maple syrup urine disease: case report. In: Zschocke, Johannes; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Rahman, Shamima; Peters, Verena. JMID Reports. Berlin Heidelberg: Springer, 103-107.

Abstract

We present the positive outcome of a pregnancy in a woman with severe classic maple syrup urine disease (MSUD). Maintaining the maternal plasma levels of leucine between 200 and 300 μmol/L allowed normal development of the foetus. Tolerance of protein and leucine increased continuously from the 16th gestational week until delivery. The patient was able to increase protein and leucine intake from 5 g to nearly 30 g and 300-3,000 mg/day, respectively. Weekly measurement of branched-chain amino acid (BCAA) concentrations and the assessment of dietary intake were used to adjust protein intake. After 41 weeks of pregnancy, she gave birth to a healthy baby girl and was able to breastfeed her daughter for 6 months during which time, the protein and leucine intake were lower than during pregnancy, but higher than with her usual pre-pregnancy diet. The development of the girl is normal at the age of 3 years.

Abstract

We present the positive outcome of a pregnancy in a woman with severe classic maple syrup urine disease (MSUD). Maintaining the maternal plasma levels of leucine between 200 and 300 μmol/L allowed normal development of the foetus. Tolerance of protein and leucine increased continuously from the 16th gestational week until delivery. The patient was able to increase protein and leucine intake from 5 g to nearly 30 g and 300-3,000 mg/day, respectively. Weekly measurement of branched-chain amino acid (BCAA) concentrations and the assessment of dietary intake were used to adjust protein intake. After 41 weeks of pregnancy, she gave birth to a healthy baby girl and was able to breastfeed her daughter for 6 months during which time, the protein and leucine intake were lower than during pregnancy, but higher than with her usual pre-pregnancy diet. The development of the girl is normal at the age of 3 years.

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Additional indexing

Item Type:Book Section, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Health Sciences > Internal Medicine
Health Sciences > Endocrinology, Diabetes and Metabolism
Life Sciences > Biochemistry, Genetics and Molecular Biology (miscellaneous)
Language:English
Date:2015
Deposited On:12 Jan 2016 09:49
Last Modified:26 Jan 2022 07:59
Publisher:Springer
Series Name:JIMD Reports
Number:21
ISSN:2192-8304
ISBN:978-3-662-47171-5
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/8904_2014_401
PubMed ID:25720565