Citrullinemia Treatment & Management
- Author: Karl S Roth, MD; Chief Editor: Bruce Buehler, MD more...
Medical Care
As in all hyperammonemic states, immediately restrict dietary protein in patients with citrullinemia. Emphasize other nonprotein caloric sources to compensate.
Intravenous sodium benzoate, sodium phenylacetate, and arginine are important therapeutic avenues for reduction of blood ammonia levels. Intravenous benzoate and phenylacetate are investigational new drugs. In severe cases, hemodialysis may be indicated to rapidly reduce the blood ammonia level.
Long-term management requires close dietary monitoring and oral administration of sodium phenylbutyrate and arginine.
In every case, a biochemical geneticist should administer definitive short- and long-term treatment with sufficient laboratory backup to obtain rapid ammonia and amino acid levels.
Consultations
- Geneticist
- Metabolic disease specialist
- Dietitian
Diet
As in all hyperammonemic states, immediately restrict dietary protein in patients with citrullinemia.
Emphasize other nonprotein caloric sources to compensate.
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