Neonatal case of novel   KMT2D   mutation in  K abuki syndrome with severe hypoglycemia | Zendy

Gohda Yuji | Zendy; Oka Shohki | Zendy; Matsunaga Takamoto | Zendy; Watanabe Satoshi | Zendy; Yoshiura Kohichiro | Zendy; Kondoh Tatsuro | Zendy; Matsumoto Tadashi | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Premium

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.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here

Accelerating Research