CITRULLINEMIA WITH DEFECTIVE UREA PRODUCTION

Abstract

The second case of citrullinemia is described in a 21-month-old female. In contrast to previous patients with urea cycle enzyme defects, the present child fails to produce normal amounts of urea. Physical growth has been adequate, except for microcephaly. Unfortunately, her psychomotor milestones are slow. Triiodothyronine, pyridoxine, and neomycin were given with no beneficial effects. Nitrogen balances in addition to protein and arginine loading studies suggest alternate pathways for the degradation of arginine.