Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry

• Type of Material: Article
• Authors: Aileen Kenneson, Emory University; Yetsa Osara, Emory University; Theresa Pringle, Emory University; Lauren Youngborg, Emory University; Rani Singh, Emory University
• Language: English
• Date: 2018-06-01
• Publisher: Elsevier
• Publication Version: Final Published Version
• Copyright Statement: © 2018 Elsevier Inc.
• License: Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.1016/j.ymgmr.2018.01.001
• Title of Journal or Parent Work: Molecular Genetics and Metabolism Reports
• ISSN: 2214-4269
• Volume: 15
• Start Page: 22
• End Page: 27
• Grant/Funding Information: This project was partially funded by the Health Resources and Services Administration (HRSA) [Grant Number: H46MC24090].
• Keywords: MANAGEMENT; TERM-FOLLOW-UP; Life Sciences & Biomedicine; DONOR LIVER-TRANSPLANTATION; Maple syrup urine disease; Inborn error of metabolism; METABOLISM; Registry; Inherited metabolic disorder; Natural history; Science & Technology; Genetics & Heredity; INBORN-ERRORS; LIVING DONOR
• Research Categories: Biology, Genetics

Abstract

Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder (OMIM #248600) in which affected individuals cannot metabolize branched-chain amino acids (BCAA) (leucine, isoleucine, and valine) due to pathogenic variations in one of three genes: BCKDHA, BCKDHB, and DBT encoding the E1α, E1β, and E2 subunits of the branched-chain α-ketoacid dehydrogenase (BCKDH) enzyme complex. Consequently, these amino acids and their corresponding α-ketoacids accumulate in the body. In the United States of America (USA), the incidence of MSUD is approximately 1:198,000, although it is considerably higher in some populations such as Old Order Mennonite (1:358) and Ashkenazi Jewish populations (1:26,000).