Ornithine Transcarbamylase Deficiency — A Cause of Bizarre Behavior in a Man

THE most commonly reported deficiency of the urea-cycle enzymes is that of ornithine transcarbamylase (E.C.2.1.3.3). 1 It is inherited as an X-linked defect. 2 , 3 In the usual forms of this disease, ornithine transcarbamylase activity in the liver varies widely in heterozygous females but is usually undetectable in males. Consequently, the disease occurs later in females and its clinical manifestations are less severe, whereas affected males usually die before they are one year old. However, a few boys have been described who had 5 to 30 percent of normal enzyme activity and later onset of symptoms. 1 , 4 We report the case of an unusual, . . .