Learn more about Arginase 1 Deficiency
Arginase 1 Deficiency (ARG1-D) is an inherited metabolic disorder affecting children, teens, and adults. It is characterised by high levels of plasma arginine.
ARG1-D is a type of urea cycle disorder (UCD) that impacts a person’s health over time. This rare disease affects not only the person who has been diagnosed, but also their family and loved ones.
Understanding ARG1-D
Facts you should know 1-5
- ARG1-D is caused by the body’s inability to break down arginine in the urea cycle
- Arginine builds up in the body, impacting a person’s ability to do the basic tasks of everyday life
- Symptoms usually appear between 2 and 4 years of age and continue to progress into adulthood
- In some cases, symptoms can appear after puberty
1. Carvalho DR et al. Pediatr Neurol. 2012;46:369–374. 2. Crombez EA, Cederbaum SD. Mol Genet Metab. 2005;84:243–251. 3. Sin YY et al. J Mol Med (Berl). 2015;93:1287–1296. 4. Cai X et al. Medicine. 2018;97:e9880. 5. Bakhiet M et al. Medicine (Baltimore). 2018;97:e10780.
ARG1-D affects one in a million
Arginase 1 Deficiency knows no borders and affects families worldwide. It is crucial to recognise and diagnose ARG1-D early. The sooner you are seen by a healthcare professional, the better.
Transcript
Arginase 1 Deficiency, is a rare, inherited metabolic disease. 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 Arginase-1 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, 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.
