PEDIATRICS Vol. 40 No. 4 October 1967, pp. 565-574
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CITRULLINEMIA WITH DEFECTIVE UREA PRODUCTION

Grant Morrow III M.D.1, Lewis A. Barness M.D.1, and Mary L. Efron M.D.1

1 The Department of Pediatrics, Hospital of the University of Pennsylvania and University of Pennsylvania School of Medicine; Clinical Research Centers, Children's Hospital of Philadelphia and Hospital of the University of Pennsylvania; The Neurology Service, Massachusetts General Hospital; and the Department of Neurology, Harvard Medical School

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.

Submitted on February 27, 1967
Accepted on April 5, 1967