Pregnancy in an adolescent with maple syrup urine disease: Case report

Michelle E. Abadingo; Mary Ann R. Abacan; Jeanne Ruth U. Basas; Carmencita D. Padilla

Molecular Genetics and Metabolism Reports (Jun 2021)

Pregnancy in an adolescent with maple syrup urine disease: Case report

Michelle E. Abadingo,
Mary Ann R. Abacan,
Jeanne Ruth U. Basas,
Carmencita D. Padilla

Affiliations

Michelle E. Abadingo: Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of the Philippines – Philippine General Hospital, Manila, Philippines; Institute of Human Genetics, National Institutes of Health, University of the Philippines, Manila, Philippines; Newborn Screening Reference Center, National Institutes of Health, University of the Philippines, Manila, Philippines; Corresponding author.
Mary Ann R. Abacan: Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of the Philippines – Philippine General Hospital, Manila, Philippines; Institute of Human Genetics, National Institutes of Health, University of the Philippines, Manila, Philippines
Jeanne Ruth U. Basas: Institute of Human Genetics, National Institutes of Health, University of the Philippines, Manila, Philippines
Carmencita D. Padilla: Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of the Philippines – Philippine General Hospital, Manila, Philippines; Institute of Human Genetics, National Institutes of Health, University of the Philippines, Manila, Philippines; Newborn Screening Reference Center, National Institutes of Health, University of the Philippines, Manila, Philippines

Journal volume & issue: Vol. 27
p. 100745

Abstract

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Maple syrup urine disease (MSUD, MIM #248600) is an autosomal recessive metabolic disorder that results in elevation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine. Elevation of BCAA and certain alpha keto-acids is associated with a catabolic state and may result in neurological and developmental delays, feeding problems, and a urine and cerumen odor of maple syrup. Pregnancy is a period of multiple adaptations necessary to support fetal growth and development. Both the third trimester of pregnancy and the postpartum period present the possibility for catabolic states. We describe our treatment of an adolescent patient with intermittent MSUD and her resulting positive pregnancy outcome.

Published in Molecular Genetics and Metabolism Reports

ISSN: 2214-4269 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Medicine (General); Science: Biology (General)
Website: http://www.journals.elsevier.com/molecular-genetics-and-metabolism-reports/

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