Hyperinsulinism and hyperammonaemia syndrome due to a novel missense mutation in the allosteric domain of the glutamate dehydrogenase 1 gene

J Paediatr Child Health. 2008 Sep;44(9):517-9. doi: 10.1111/j.1440-1754.2008.01361.x.

Abstract

Congenital hyperinsulinism is one of the causes of persistent hypoglycaemia in neonates and infants. We describe a one-month-old boy with a rare form of congenital hyperinsulinism characterised by hypoglycaemia and hyperammonaemia.

Publication types

  • Case Reports

MeSH terms

  • Allosteric Site / genetics*
  • Glutamate Dehydrogenase / genetics*
  • Hong Kong
  • Humans
  • Hyperammonemia / etiology*
  • Hyperammonemia / genetics*
  • Hyperglycemia / genetics
  • Hyperinsulinism / etiology*
  • Hyperinsulinism / genetics*
  • Infant
  • Male
  • Mutation, Missense / genetics*

Substances

  • Glutamate Dehydrogenase