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Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia.

Abstract
A newborn Japanese girl with Kabuki syndrome had neonatal persistent hyperinsulinemic hypoglycemia, which seemed to be a rare complication of Kabuki syndrome. On sequence analysis she was found to have a novel heterozygous KMT2D mutation. Diazoxide therapy was effective for the hypoglycemia. Hypoglycemia should be considered when Kabuki syndrome patients have convulsion or other non-specific symptoms. Diazoxide may help to improve hypoglycemia in patients with Kabuki syndrome complicated with hyperinsulinemic hypoglycemia.
AuthorsYuji Gohda, Shohki Oka, Takamoto Matsunaga, Satoshi Watanabe, Koh-ichiro Yoshiura, Tatsuro Kondoh, Tadashi Matsumoto
JournalPediatrics international : official journal of the Japan Pediatric Society (Pediatr Int) Vol. 57 Issue 4 Pg. 726-8 (Aug 2015) ISSN: 1442-200X [Electronic] Australia
PMID25944076 (Publication Type: Journal Article)
Copyright© 2015 Japan Pediatric Society.

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