At the Global Genes Patient and Advocacy Summit, we talked with Leafy Wilson, the mother of a 26-year-old with Arginase-1 deficiency, a rare urea cycle disorder that results in the accumulation of arginine in the body.
To avoid arginine accumulation, patients with Arginase-1 deficiency must be on an extremely low protein diet. As Ms Wilson explains in this video, her son tends to eat lots of carbohydrates and fats (i.e. French fries) to maintain his health.
Arginase-1 deficiency is an extremely rare condition and symptoms may be difficult to detect in early childhood but around the age of 2 to 4 years of age, stiff limbs, falls, and missed cognitive milestones usually are the triggers to get a screening for an inborn error of metabolism.
With proper diet and management, symptoms can be controlled.