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

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Congenital Hyperinsulinism
Hyperammonemia
Glutamate Dehydrogenase
Mutation
Nesidioblastosis
Genes
Pancreatectomy
Endocrine Cells
Hyperinsulinism
Coma
Hypoglycemic Agents
Intellectual Disability
Pancreas
Seizures
Parturition

All Science Journal Classification (ASJC) codes

  • Internal Medicine

Cite this

A Japanese case of congenital hyperinsulinism with hyperammonemia due to a mutation in glutamate dehydrogenase (GLUD1) gene. / Yasuda, Kazuki; Koda, Naoya; Kadowaki, Hiroko; Ogawa, Yoshihiro; Kimura, Satoshi; Kadowaki, Takashi; Akanuma, Yasuo.

In: Internal Medicine, Vol. 40, No. 1, 01.01.2001, p. 32-37.

Research output: Contribution to journalArticle

Yasuda, Kazuki ; Koda, Naoya ; Kadowaki, Hiroko ; Ogawa, Yoshihiro ; Kimura, Satoshi ; Kadowaki, Takashi ; Akanuma, Yasuo. / A Japanese case of congenital hyperinsulinism with hyperammonemia due to a mutation in glutamate dehydrogenase (GLUD1) gene. In: Internal Medicine. 2001 ; Vol. 40, No. 1. pp. 32-37.
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