CITRULLINEMIA WITH DEFECTIVE UREA PRODUCTION
- 1 October 1967
- journal article
- research article
- Published by American Academy of Pediatrics (AAP) in Pediatrics
- Vol. 40 (4), 565-574
- https://doi.org/10.1542/peds.40.4.565
Abstract
The 2nd 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 was adequate, except formicrocephaly. 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.This publication has 7 references indexed in Scilit:
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