Associate Professor Masahiro Kikuya and his colleagues published a new article about ToMMo Child Health Study on Journal of Pediatrics and Congenital Disorders.

To detect citrin deficiency, researchers developed a new parent-administered questionnaire method for screening. Homozygous mutations in the SLC25A13 cause citrin deficiency.

The schoolchildren in 28 out of 35 municipalities of Miyagi Prefecture in Japan from 2012 to 2015 participated the study. Total of 17,020 questionnaires were returned. With these questionnaires, researchers detected two heterozygous carriers of mutations in the SLC25A13 gene. However, no homozygous carrier was detected.

Researchers plan to expand the number of participants to improve the questionnaire.

Please see below for more details.

Article

Title: Development of a Questionnaire Method of Screening for Citrin Deficiency in Schoolchildren

Authors: Masako Miyashita, Mami Ishikuro, Masahiro Kikuya, Chizuru Yamanaka, Satoshi Mizuno, Masato Nagai, Yuki Sato, Taku Obara, Hirohito Metoki, Atsuo Kikuchi, Naoki Nakaya, Atsushi Hozawa, Ichiro Tsuji, Nobuo Yaegashi, Masayuki Yamamoto, Shigeo Kure and Shinichi Kuriyama

Published journal:Journal of Pediatrics and Congenital Disorders 2017 Vol 4: 101

Published date: July 10, 2017