Arginase Deficiency Treatment & Management
- Author: Karl S Roth, MD; Chief Editor: Maria Descartes, MD more...
Protein intake is restricted in patients with arginase deficiency. A carefully monitored diet plan is necessary.
Because severe hyperammonemia is unusual, the need for intravenous therapy or hemodialysis is unlikely. In the event that intravenous therapy or hemodialysis is required, the need to omit intravenous arginine from the treatment regimen should be obvious.
Long-term therapy rests on provision of a low-protein diet and, possibly, oral sodium benzoate or sodium phenylbutyrate. A recent report suggests that glycerol phenylbutyrate supplies a more extended scavenger effect ; this deserves further evaluation, as it could provide for an improvement in quality of life for affected individuals. A metabolic disease expert should guide the treatment of this rare condition.
As has been the case for several years with all urea cycle disorders, orthoptic liver transplantation has been advocated as a definitive cure. In a recent report of long-term follow-up of 2 arginase-deficient patients, Silva et al claim the arrest of neurological progression without dietary restrictions. Since the disorder is so uncommon, it is difficult to verify such claims based on a large patient series.
See the list below:
Metabolic disease specialist
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