title: Molecular genetic characterization of maple syrup urine disease in European families.
abstract: Maple syrup urine disease results from defects in the branched chain alpha-ketoacid dehydrogenase complex. Cells from seven German, three Turkish, and two Italian families including five consanguineous matings were analyzed for the causative mutations. Enzyme assays were used to confirm the initial clinical diagnosis of all probands. Immunoblots of mitochondrial proteins from these probands revealed reduced expression of the E1 alpha and beta proteins of the complex. Previous studies showed that interaction of alpha and beta was necessary to stabilize both proteins so that defects in either protein can result in decreased presence of both. The E1 alpha Y393N mutation common in the Mennonite population that results in diminished amounts of both alpha and beta proteins was not the cause of the reduction in these European patients.
authors.affiliation: Kinderklinik der Medizinischen Einrichtungen, Heinrich-Heine-Universität, Düsseldorf, Germany.
authors.forename: F
authors.initials: F
authors.lastname: Peinemann
authors.forename: U
authors.initials: U
authors.lastname: Wendel
authors.forename: D J
authors.initials: DJ
authors.lastname: Danner
mesh_terms: D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); D001483:Base Sequence; D005060:Europe; D006801:Humans; D007658:Ketone Oxidoreductases / Q000235:genetics; D008375:Maple Syrup Urine Disease / Q000235:genetics*; D008928:Mitochondria / Q000737:chemistry; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000235:genetics; D009154:Mutation; D012333:RNA, Messenger / Q000032:analysis
chemical_list: D009097:Multienzyme Complexes; D012333:RNA, Messenger; D007658:Ketone Oxidoreductases; D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)