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

Kazuki Yasuda, Naoya Koda, Hiroko Kadowaki, Yoshihiro Ogawa, Satoshi Kimura, Takashi Kadowaki, Yasuo Akanuma

Research output: Contribution to journalArticle

11 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)32-37
Number of pages6
JournalInternal Medicine
Volume40
Issue number1
DOIs
Publication statusPublished - Jan 1 2001
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Internal Medicine

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