A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairments

GTP cyclohydrolase I (GTPCH) deficiency could impair the synthesis of tetrahydrobiopterin and causes metabolic diseases involving phenylalanine catabolism, neurotransmitter synthesis, nitric oxide production and so on. Though improvements could be achieved by tetrahydrobiopterin and neurotransmitter precursor levodopa supplementation, residual motor and mental deficits remain in some patients. An appropriate GTPCH deficiency animal model with clinical symptoms, especially the motor impairments, is still not available for mechanism and therapy studies yet.

Source: Metabolism - Clinical and Experimental - February 8, 2019 Category: Biomedical Science Authors: Xiaoling Jiang, Huazhen Liu, Yongxian Shao, Mingzhi Peng, Wen Zhang, Duan Li, Xiuzhen Li, Yanna Cai, Ting Tan, Xinshuo Lu, Jianan Xu, Xueying Su, Yunting Lin, Zongcai Liu, Yonglan Huang, Chunhua Zeng, Ya-ping Tang, Li Liu Source Type: research