ABSTRACT
Argininemia is a disorder in which the clinical picture is quite different from any of the other disorders of the urea cycle. The picture is that of a spastic diplegia or quadriplegia [1-3]. It was reported in 1965 by Serrano [1] and in 1969 by Terheggen and Colombo and their colleagues [2]. The disease is caused by a virtually complete absence [4,5] of the activity of arginase (EC 3.5.3.1) (Figure 33.1). The human and rat genes have been cloned [6,7]. The human gene is located on chromosome 6 at band q23 [7]. A small number of heterogeneous mutations have so far been identified [8,9].
