Condition: Arginase Deficiency

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About Arginase Deficiency

Arginase deficiency is a rare inherited disorder characterized by complete or partial lack of the enzyme arginase. Arginase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of the arginase enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood and arginine (hyperarginemia) in the blood and cerebrospinal fluid. Affected infants may exhibit mental retardation, seizures, and spasticity. Arginase deficiency is inherited as an autosomal recessive trait.

The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine. Nitrogen is a waste product of protein metabolism. Failure to break down nitrogen results in the abnormal accumulation of nitrogen, in the form of ammonia, in the blood.

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Last updated on Jun 16 2018 at 09:59
Disclaimer: The list and ratings above are for informational purposes only, and is intended to supplement, not substitute for, the expertise and judgment of your physician, pharmacist or other healthcare professional. The goal of the information is to provide you with a comprehensive view of all available treatments, but should not be construed to indicate that use of any one treatment is safe, appropriate, or effective for you. Decisions about use of a new treatment, or about a change in your current treatment plan, should be in consultation with your doctor or other healthcare professional.