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Neonatal case of novel KMT2D mutation in K abuki syndrome with severe hypoglycemia
Author(s) -
Gohda Yuji,
Oka Shohki,
Matsunaga Takamoto,
Watanabe Satoshi,
Yoshiura Kohichiro,
Kondoh Tatsuro,
Matsumoto Tadashi
Publication year - 2015
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12574
Subject(s) - hypoglycemia , medicine , diazoxide , hyperinsulinemic hypoglycemia , neonatal hypoglycemia , mutation , pediatrics , complication , convulsion , endocrinology , insulin , epilepsy , genetics , psychiatry , gene , gestation , pregnancy , gestational diabetes , biology
A newborn J apanese girl with K abuki syndrome had neonatal persistent hyperinsulinemic hypoglycemia, which seemed to be a rare complication of K abuki 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 K abuki syndrome patients have convulsion or other non‐specific symptoms. Diazoxide may help to improve hypoglycemia in patients with K abuki syndrome complicated with hyperinsulinemic hypoglycemia.