We reported a Chinese male child presenting with hyperargininemia and progressive spastic diplegia, who has a novel compound heterozygous mutation in the arginase-1 (ARG1) gene (c.263-266delAGAA, p.K88Rfs∗45;c.674T>C,p.L216P), respectively, coming from his mother and father. Here, ARG1 is linked to arginase deficiency.