Variants of citrullinaemia.

Abstract

Variants of citrullinaemia. Three patients with citrullinaemia are described. In 2 the disease ran a rapidly fatal course. The third patient developed normally. Necropsy was performed on the 2 patients with the acute form of the disease; the main changes were in the brain and liver. Comparing the 3 patients with 5 patients in published reports, the degree of hyperammonaemia is the main determinant of the effects of the metabolic error, and prognosis is governed more by the severity of the enzymatic impairment than by therapeutic efforts.