Article
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
Journal of inherited metabolic disease - 1 May 2022
Kido Jun, Häberle Johannes, Sugawara Keishin, Tanaka Toju, Nagao Masayoshi, Sawada Takaaki, Wada Yoichi, Numakura Chikahiko, Murayama Kei, Watanabe Yoriko, Kojima-Ishii Kanako, Sasai Hideo, Kosugiyama Kiyotaka, Nakamura Kimitoshi
Abstract excerpt
Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene. The disease can present with age-dependent clinical manifestations: neonatal intrahepatic cholestasis by citrin deficiency (NICCD), failure to thrive, and dyslipidemia by citrin deficiency (FTTDCD), and adult-onset type II citrullinemia (CTLN2). As a nationwide study to investigate the clinical manifestations, medical...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.