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Genetic and Rare Diseases Information Center (GARD)

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Arginase deficiency

Other Names for this Disease
  • ARG1 deficiency
  • Argininemia
  • Hyperargininemia
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Your Question

What is the best treatment for a 3 year old who has arginase deficiency?  And what is the prognosis?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What treatments are available for arginase deficiency?

Individuals with arginase deficiency should regularly visit a doctor who is familiar with metabolic disorders to monitor the levels of nitrogen in the blood; this is done by testing for a compound called ammonia, which is made from nitrogen.  Routine treatment for this condition includes limiting the amount of protein in the diet.  Special dietary formulas low in protein may be used in place of a normal diet.  Several medications, such as sodium benzoate and sodium phenylbutyrate, also may be taken to remove excess ammonia from the blood.  If the amount of ammonia in the blood becomes too high, individuals with arginase deficiency may need to go to the hospital for other treatments, such as intravenous (IV) fluids or, in severe cases, dialysis.[1]
Last updated: 9/13/2012

What is the prognosis for an individual with arginase deficiency?

The prognosis for individuals with arginase deficiency is variable.  It is thought that 75% of affected individuals live long with this disease.  The types and severity of disability associated with this condition vary among affected individuals: disability is more physical in some and more intellectual in others.  If untreated, the prognosis for individuals with arginase deficiency is poor and may include severe intellectual disability and muscle stiffness, inability to walk, and loss of control over bodily functions. [1]
Last updated: 9/13/2012