title: Identification of a founder mutation for maple syrup urine disease in Hutterites.
abstract: Maple syrup urine disease (MSUD) is an organic acidemia detected on newborn screening. The condition has been reported with increased frequency in certain founder populations including Hutterites. We present a case of MSUD in a Hutterite boy. Mutation analysis was completed and identified a candidate founder mutation in the BCKDHB gene, specifically c.595_596delAG. Further testing of other Hutterites with MSUD is needed to determine whether additional mutations may exist.
authors.forename: Amelia
authors.initials: A
authors.lastname: Mroch
authors.forename: Laura
authors.initials: L
authors.lastname: Davis-Keppen
authors.forename: Cindy
authors.initials: C
authors.lastname: Matthes
authors.forename: Quinn
authors.initials: Q
authors.lastname: Stein
mesh_terms: D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) / Q000235:genetics*; D004252:DNA Mutational Analysis; D005006:Ethnicity; D018703:Founder Effect; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008375:Maple Syrup Urine Disease / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree
chemical_list: D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)