Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan

高氨血症 尿素循环 鸟氨酸转氨酶缺乏症 鸟氨酸转氨酶 精氨琥珀酸合成酶 医学 精氨琥珀酸裂解酶 肝移植 儿科 内科学 精氨酸酶 氨甲酰磷酸合成酶 移植 生物 精氨酸 基因 氨基酸 生物化学
作者
Jun Kido,Shirou Matsumoto,Johannes Häberle,Yoko Nakajima,Yoichi Wada,Narutaka Mochizuki,Kei Murayama,Tomoko Lee,Hidetaka Mochizuki,Yoriko Watanabe,Reiko Horikawa,Mureo Kasahara,Kimitoshi Nakamura
出处
期刊:Journal of Inherited Metabolic Disease [Springer Science+Business Media]
卷期号:44 (4): 826-837 被引量:19
标识
DOI:10.1002/jimd.12384
摘要

Urea cycle disorders (UCDs) are inherited metabolic disorders with impaired nitrogen detoxification caused by defects in urea cycle enzymes. They often manifest with hyperammonemic attacks resulting in significant morbidity or death. We performed a nationwide questionnaire-based study between January 2000 and March 2018 to document all UCDs in Japan, including diagnoses, treatments, and outcomes. A total of 229 patients with UCDs were enrolled in this study: 73 males and 53 females with ornithine transcarbamylase deficiency (OTCD), 33 patients with carbamoylphosphate synthetase 1 deficiency, 48 with argininosuccinate synthetase deficiency, 14 with argininosuccinate lyase deficiency, and 8 with arginase deficiency. Survival rates at 20 years of age of male and female patients with late-onset OTCD were 100% and 97.7%, respectively. Blood ammonia levels and time of onset had a significant impact on the neurodevelopmental outcome (P < .001 and P = .028, respectively). Hemodialysis and liver transplantation did not prevent poor neurodevelopmental outcomes. While treatment including medication, hemodialysis, and liver transplantation may aid in decreasing blood ammonia and/or preventing severe hyperammonemia, a blood ammonia level ≥ 360 μmol/L was found to be a significant indicator for a poor neurodevelopmental outcome. In conclusion, although current therapy for UCDs has advanced and helped saving lives, patients with blood ammonia levels ≥ 360 μmol/L at onset often have impaired neurodevelopmental outcomes. Novel neuroprotective measures should therefore be developed to achieve better neurodevelopmental outcomes in these patients.
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