title: [Hyperinsulinism-hyperammonemia syndrome due to a de novo mutation in exon 7 (G979A) of the glutamate dehydrogenase gene with excellent response to diazoxide].
abstract: Hyperinsulinism-hyperammonemia syndrome is characterized by recurrent and symptomatic hypoglycemias in childhood, secondary to hyperinsulinism associated with mild and asymptomatic hyperammonemia. This syndrome is caused by dominantly expressed mutations of the glutamate dehydrogenase gene (10q23.3). These mutations modify control of enzyme activity and represent the second cause of congenital hyperinsulinism of known genetic etiology. Moreover, this syndrome is the first genetic disorder due to an increase of function in an enzyme of intermediary metabolism to have been identified. We present the case of a 16-month-old boy with symptomatic recurrent hypoglycemias from the end of the first year of life, caused by a de novo mutation in exon 7 (G979A) of the GDH gene, with excellent outcome after diazoxide treatment.
authors.affiliation: Servicio de Endocrinología Pediátrica, Departamento de Pediatría, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Montero Luis
authors.forename: J
authors.initials: J
authors.lastname: Pozo Román
authors.forename: María T
authors.initials: MT
authors.lastname: Muñoz Calvo
authors.forename: G
authors.initials: G
authors.lastname: Martos Moreno
authors.forename: María A
authors.initials: MA
authors.lastname: Donoso
authors.forename: O
authors.initials: O
authors.lastname: Rubio Cabezas
authors.forename: J
authors.initials: J
authors.lastname: Argente Oliver
mesh_terms: D003981:Diazoxide / Q000627:therapeutic use*; D005969:Glutamate Dehydrogenase / Q000235:genetics*; D006801:Humans; D022124:Hyperammonemia / Q000188:drug therapy* / Q000235:genetics*; D006946:Hyperinsulinism / Q000188:drug therapy* / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation; D013577:Syndrome
chemical_list: D005969:Glutamate Dehydrogenase; D003981:Diazoxide