title: A Japanese case of congenital hyperinsulinism with hyperammonemia due to a mutation in glutamate dehydrogenase (GLUD1) gene.
abstract: We describe a Japanese case of neonatal hyperinsulinism due to a de novo mutation (Gly446Asp) in glutamate dehydrogenase gene (GLUD1). A boy suffered from hypoglycemic coma with relative hyperinsulinemia on day 1 after birth, and received subtotal pancreatectomy. Examination of the resected pancreas revealed a diffuse increase in endocrine cells, consistent with 'nesidioblastosis'. He is now 15 years old and has exhibited mild but persistent hyperammonemia, which is a very unique feature of the disorder caused by GLUD1 activating mutations. He has also been suffering from seizures and mental retardation. Thus, GLUD1 mutations can be a cause of congenital hyperinsulinism in Japanese.
authors.affiliation: Institute for Diabetes Care and Research, Asahi Life Foundation, Department of Metabolic Diseases, Graduate School of Medicine, Universitiy of Tokyo.
authors.forename: K
authors.initials: K
authors.lastname: Yasuda
authors.forename: N
authors.initials: N
authors.lastname: Koda
authors.forename: H
authors.initials: H
authors.lastname: Kadowaki
authors.forename: Y
authors.initials: Y
authors.lastname: Ogawa
authors.forename: S
authors.initials: S
authors.lastname: Kimura
authors.forename: T
authors.initials: T
authors.lastname: Kadowaki
authors.forename: Y
authors.initials: Y
authors.lastname: Akanuma
mesh_terms: D000494:Allosteric Regulation; D019943:Amino Acid Substitution; D000641:Ammonia / Q000097:blood*; D001049:Apnea / Q000209:etiology; D003128:Coma / Q000209:etiology; D018740:Genetic Heterogeneity; D005969:Glutamate Dehydrogenase / Q000235:genetics*; D006801:Humans; D006946:Hyperinsulinism / Q000151:congenital* / Q000201:enzymology / Q000235:genetics / Q000601:surgery; D007003:Hypoglycemia / Q000209:etiology; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D010180:Pancreatectomy; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D015183:Restriction Mapping; D013036:Spasms, Infantile / Q000209:etiology
chemical_list: D000641:Ammonia; D005969:Glutamate Dehydrogenase