Arginase-1 deficiency.

Abstract excerpt

Arginase-1 (ARG1) deficiency is a rare autosomal recessive disorder that affects the liver-based urea cycle, leading to impaired ureagenesis. This genetic disorder is caused by 40+ mutations found fairly uniformly spread throughout the ARG1 gene, resulting in partial or complete loss of enzyme function, which catalyzes the hydrolysis of arginine to ornithine and urea. ARG1-deficient patients exhibit...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic Association Studies
• Share to Liver
• Share to Mutation