Arginase Deficiency

📋Overview

Arginase deficiency is a rare inherited metabolic disorder classified as a urea cycle disorder. It results from mutations in the ARG1 gene leading to deficient activity of the enzyme arginase, which normally converts arginine into ornithine and urea. This deficiency causes elevated arginine levels and impaired ammonia detoxification. It is also known as argininemia, a legacy term. The condition primarily affects the nervous system and can cause progressive neurological symptoms.