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

• Authors: Aileen Kenneson, Emory University; Yetsa Osara, Emory University; Theresa Pringle, Emory University; Lauren Youngborg, Emory University; Rani Singh, Emory University
• Journal Title: Molecular Genetics and Metabolism Reports
• Volume: Volume 15
• Publisher: Elsevier | 2018-06-01, Pages 22-27
• Type of Work: Article | Final Publisher PDF
• Publisher DOI: http://doi.org/10.1016/j.ymgmr.2018.01.001
• Subjects: Biology, Genetics
• Keywords: Science & Technology; Life Sciences & Biomedicine; Genetics & Heredity; Maple syrup urine disease; Inherited metabolic disorder; Inborn error of metabolism; Natural history; Registry; DONOR LIVER-TRANSPLANTATION; TERM-FOLLOW-UP; LIVING DONOR; INBORN-ERRORS; MANAGEMENT; METABOLISM

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).