Abstract
Arginase deficiency (ARG1 deficiency, OMIM # 207800) is a urea cycle disorder. Arginase 1 (EC3.5.3.1), also known as arginine amidinase, is an enzyme found throughout the body that catalyzes the conversion of arginine to ornithine and urea in the final step of the urea cycle. When activity is deficient and the conversion cannot proceed, arginine concentrations rise as arginine accumulates.
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