Treatment for Arginase 1 Deficiency
There are currently no approved treatments to specifically address the underlying cause of ARG1-D, but late-stage research is underway that gives us hope. We will continue to advocate as a community for more awareness, focus and treatment options for those living with this rare but devastating disease.
There are important steps to support a patient’s well-being. A metabolic team of specialists including a nutritionist/dietician should be part of any patient’s care team, with a focus on reducing plasma ammonia and arginine concentration, preventing excess ammonia from being formed and reducing the amount of nitrogen in the diet.
Dietary restrictions for individuals with ARG1-D are very important and aimed at limiting the amount of arginine and protein intake. Individuals with ARG1-D are placed on a low-protein, arginine-restricted diet supplemented by essential amino acids.
It is also important to help reduce the amount of plasma ammonia concentration. Some people may be prescribed oral nitrogen scavenger drugs sodium phenylbutyrate and sodium benzoate. Ammonul can be administered intravenously to treat the excess ammonia in the blood. In extreme cases dialysis may be used.
Seizures are treated with a variety of medications such as phenobarbital or carbamazepine. Valproic acid for the treatment of seizures should be avoided as it can increase blood ammonia levels. Always talk to your doctor about the pros and cons of the medications that are available and decide what is right for you or for you and your child.
Affected individuals should receive periodic blood tests to determine the levels of ammonia and arginine in the blood and to be sure that liver function is not impaired. Excessive levels of ammonia or arginine should be promptly treated.
Genetic counseling is recommended for affected individuals and their families, and as always check with the patient’s doctor before beginning any treatment plan.