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

Kar Ki Chik; Chun Wing Chan; Ching Wan Lam; Kwok Leung Ng

Journal Article

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

Journal of Paediatrics and Child Health (2008) 44(9) 517-519

DOI: 10.1111/j.1440-1754.2008.01361.x

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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. © 2008 The Authors.

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Chik, K. K., Chan, C. W., Lam, C. W., & Ng, K. L. (2008). Hyperinsulinism and hyperammonaemia syndrome due to a novel missense mutation in the allosteric domain of the Glutamate dehydrogenase 1 gene. Journal of Paediatrics and Child Health, 44(9), 517–519. https://doi.org/10.1111/j.1440-1754.2008.01361.x

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

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