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Pregnancy in an adolescent with maple syrup urine disease: Case report
Michelle E Abadingo1,2,3, Mary Ann R Abacan1,2, Jeanne Ruth U Basas2
1Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of the Philippines - Philippine General Hospital, Manila, Philippines.
Abstract:
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.
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