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

doi:10.2169/internalmedicine.40.32

Kazuki YASUDA, Naoya KODA, Hiroko KADOWAKI, Yoshihiro OGAWA, Satoshi KIMURA, Takashi KADOWAKI, Yasuo AKANUMA

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Keywords: hypoglycemia, nesidioblastosis

JOURNAL FREE ACCESS

2001 Volume 40 Issue 1 Pages 32-37

DOI https://doi.org/10.2169/internalmedicine.40.32

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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 hyperinsulinisni in Japanese.
(Internal Medicine 40: 32-37, 2001)

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