Physical, cognitive, and social status of patients with urea cycle disorders in Japan

• DOI: 10.1016/j.ymgmr.2021.100724
• Publication Date: 2021-02-07T20:04:46Z
• Authors: Jun Kido; Shirou Matsumoto; Tetsuya Ito; Shinichi Hirose; Kaori Fukui; Kanako Kojima-Ishii; Yuichi Mushimoto; Shinobu Yoshida; Mika Ishige; Norio Sakai; Kimitoshi Nakamura
• Keywords: Hyperammonemia; Argininosuccinate synthase; Ornithine transcarbamylase; Argininosuccinate lyase; Carbamoyl phosphate synthetase; Ornithine transcarbamylase deficiency

Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia. Severe hyperammonemia adversely affects the brain. Therefore, we conducted a nationwide study between January 2000 and March 2018 understand present status of UCD patients in Japan regarding diagnosis, treatments, outcomes. A total 229 with UCDs (126 patients: ornithine transcarbamylase deficiency [OTCD]; 33: carbamoyl phosphate synthetase 1 [CPS1D]; 48: argininosuccinate [ASSD]; 14: lyase [ASLD]; 8: arginase [ARG1D]) were enrolled study. Although growth impairment is common UCDs, discovered Japanese only slightly shorter than mean height general adult population Japan. Patients neonatal-onset more likely experience difficulty finding employment spouse; however, some late-onset employed married. Additionally, intellectual developmental disabilities, such as attention deficit hyperactivity disorder (ADHD) autism, hinder from achieving healthy social life. Moreover, identified it vital for presenting mild moderate disabilities receive support. believe robust support system may enable them actively participate society.