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

Jun Kido; Shirou Matsumoto; Tetsuya Ito; Shinichi Hirose; Kaori Fukui; Kanako Kojima-Ishii; Yuichi Mushimoto; Shinobu Yoshida; Mika Ishige; Norio Sakai; Kimitoshi Nakamura

doi:10.1016/j.ymgmr.2021.100724

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

Mol Genet Metab Rep. 2021 Feb 7:27:100724. doi: 10.1016/j.ymgmr.2021.100724. eCollection 2021 Jun.

Authors

Affiliations

¹ Department of Pediatrics, Graduate School of Medical Sciences, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
² Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
³ Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.
⁴ The Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
⁵ Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
⁶ Department of Pediatrics, Omihachiman Community Medical Center, Shiga, Japan.
⁷ Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.
⁸ Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University Graduate School of Medicine, Suita, Japan.

Abstract

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

Keywords: Developmental disability; Intellectual disability; Physical manifestation; Social support; Urea cycle disorders.