title: Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation.
abstract: Maple syrup urine disease (MSUD) is an inherited disorder of metabolism of the branched-chain amino acids leucine, isoleucine, and valine. Complications of acute elevation in plasma leucine include ketoacidosis and risk of cerebral edema, which can be fatal. Individuals with MSUD are at risk of metabolic crisis throughout life, especially at times of physiological stress. We present a case of successful management of a woman with MSUD through pregnancy, delivery, postpartum, and lactation, including nutrition therapy using modified parenteral nutrition.
authors.affiliation: Center for Nutrition, Boston Children's Hospital, Boston, Massachusetts ann.wessel@childrens.harvard.edu.
authors.forename: Ann E
authors.initials: AE
authors.lastname: Wessel
authors.affiliation: Department of Nutrition, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Kris M
authors.initials: KM
authors.lastname: Mogensen
authors.affiliation: Center for Nutrition, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Frances
authors.initials: F
authors.lastname: Rohr
authors.affiliation: Department of Nutrition, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Miriam
authors.initials: M
authors.lastname: Erick
authors.affiliation: Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
authors.forename: Edward G
authors.initials: EG
authors.lastname: Neilan
authors.affiliation: Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Sameer
authors.initials: S
authors.lastname: Chopra
authors.affiliation: Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
authors.forename: Harvey L
authors.initials: HL
authors.lastname: Levy
authors.affiliation: Division of Maternal Fetal Medicine and Reproductive Genetics, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Kathryn J
authors.initials: KJ
authors.lastname: Gray
authors.affiliation: Division of Maternal Fetal Medicine and Reproductive Genetics, Brigham and Women's Hospital, Boston, Massachusetts Department of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School, Boston, Massachusetts.
authors.forename: Louise
authors.initials: L
authors.lastname: Wilkins-Haug
authors.affiliation: Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
authors.forename: Gerard T
authors.initials: GT
authors.lastname: Berry
mesh_terms: D000328:Adult; D000597:Amino Acids, Branched-Chain / Q000097:blood; D002149:Energy Intake; D005260:Female; D006801:Humans; D007774:Lactation; D008375:Maple Syrup Urine Disease / Q000628:therapy*; D009751:Nutritional Requirements; D010288:Parenteral Nutrition; D011247:Pregnancy; D011248:Pregnancy Complications / Q000628:therapy*; D016896:Treatment Outcome
chemical_list: D000597:Amino Acids, Branched-Chain
keywords: MSUD; lactation; maple syrup urine disease; parenteral nutrition; pregnancy