A Japanese case of congenital hyperinsulinism with hyperammonemia due to a mutation in glutamate dehydrogenase (GLUD1) gene

Intern Med. 2001 Jan;40(1):32-7. doi: 10.2169/internalmedicine.40.32.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Allosteric Regulation
  • Amino Acid Substitution*
  • Ammonia / blood*
  • Apnea / etiology
  • Coma / etiology
  • Genetic Heterogeneity
  • Glutamate Dehydrogenase / genetics*
  • Humans
  • Hyperinsulinism / congenital*
  • Hyperinsulinism / enzymology
  • Hyperinsulinism / genetics
  • Hyperinsulinism / surgery
  • Hypoglycemia / etiology
  • Infant, Newborn
  • Intellectual Disability / etiology
  • Japan
  • Male
  • Mutation, Missense*
  • Pancreatectomy
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single-Stranded Conformational
  • Restriction Mapping
  • Spasms, Infantile / etiology

Substances

  • Ammonia
  • Glutamate Dehydrogenase