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

研究成果: ジャーナルへの寄稿学術誌査読

11 被引用数 (Scopus)

抄録

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.

本文言語英語
ページ(範囲)32-37
ページ数6
ジャーナルInternal Medicine
40
1
DOI
出版ステータス出版済み - 1月 2001
外部発表はい

!!!All Science Journal Classification (ASJC) codes

  • 内科学

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