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

doi:10.1016/j.ymgmr.2021.100745

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

Mol Genet Metab Rep. 2021 Mar 26:27:100745. doi: 10.1016/j.ymgmr.2021.100745. eCollection 2021 Jun.

Authors

Michelle E Abadingo^{1

2

3}, Mary Ann R Abacan^{1

2}, Jeanne Ruth U Basas², Carmencita D Padilla^{1

2

3}

Affiliations

¹ Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of the Philippines - Philippine General Hospital, Manila, Philippines.
² Institute of Human Genetics, National Institutes of Health, University of the Philippines, Manila, Philippines.
³ Newborn Screening Reference Center, National Institutes of Health, University of the Philippines, 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.

Keywords: Catabolic state; MSUD; Pregnancy.

Publication types

Case Reports