Citrullinemia Treatment & Management

Updated: Aug 10, 2017
  • Author: Karl S Roth, MD; Chief Editor: Maria Descartes, MD  more...
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Treatment

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.

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Surgical Care

As is the case for the other members of the family of urea cycle disorders, liver transplantation can be performed. The procedure has been used in several cases with excellent results, the most successful report being that of a partial orthoptic transplant from a sibling in an adult (type II) patient. [14]

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Consultations

See the list below:

  • Geneticist

  • Metabolic disease specialist

  • Dietitian

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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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