A Japanese case of congenital hyperinsulinism with hyperammonemia due to a mutation in glutamate dehydrogenase (GLUD1) gene.
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.
Yasuda
K
K
Institute for Diabetes Care and Research, Asahi Life Foundation, Department of Metabolic Diseases, Graduate School of Medicine, Universitiy of Tokyo.
Koda
N
N
Kadowaki
H
H
Ogawa
Y
Y
Kimura
S
S
Kadowaki
T
T
Akanuma
Y
Y
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
D000641:Ammonia; D005969:Glutamate Dehydrogenase