This animation describes what the ultra rare disease arginase 1 deficiency is and how it manifests. 

Arginase 1 Deficiency, is a rare, inherited metabolic disease which is passed onto the child at birth. It affects about 1 in a million people.

Meet Alex. Like many kids, he loves protein-rich foods, but for him, it's a risk. 

Normally, proteins are broken down and any waste products are excreted by the body. This occurs in the liver by a process known as the Urea Cycle. But for those with ARG1-D, this process is disrupted.

Patients with ARG1-D are missing or have a partially functioning Arginase1 enzyme which means they can’t break down and excrete waste products and toxins from the body. This leads to the accumulation of arginine in the blood which can become toxic.
This excess arginine travels to the brain and other parts of the body, where it can cause serious harm. 
The damage can be profound, affecting cognitive and physical abilities. 
The main symptoms of this progressive and debilitating disease are, Developmental delay, Intellectual disability, seizures, impaired mobility and progressive spasticity. 
As the symptoms often mimic other neurologic and neurometabolic disorders, sometimes patients with ARG1-D are misdiagnosed as having for example cerebral palsy or hereditary spastic paraplegia leading to incorrect treatments and prolonging the suffering of affected patients.

ARG1-D knows no borders, affecting families worldwide.
It's crucial to recognise and diagnose ARG1-D early, the sooner you are seen by a healthcare professional, the better.

Spread awareness: Share this video to help more people learn about Arginase 1 Deficiency. 

This video was produced by Immedica Pharma