Abadingo Michelle E, Abacan Mary Ann R, Basas Jeanne Ruth U, Padilla Carmencita D
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.
Mol Genet Metab Rep. 2021 Mar 26;27:100745. doi: 10.1016/j.ymgmr.2021.100745. eCollection 2021 Jun.
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.
枫糖尿症（MSUD，MIM #248600）是一种常染色体隐性代谢紊乱疾病，会导致支链氨基酸（BCAA）亮氨酸、异亮氨酸和缬氨酸水平升高。BCAA和某些α-酮酸水平升高与分解代谢状态相关，可能导致神经和发育迟缓、喂养问题以及尿液和耳垢有枫糖浆气味。怀孕是支持胎儿生长发育所需的多种适应性变化的时期。妊娠晚期和产后时期都存在出现分解代谢状态的可能性。我们描述了对一名患有间歇性MSUD的青少年患者的治疗以及她最终良好的妊娠结局。
