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Arginase 1 deficiency

Arginase 1 deficiency (ARG1-D) is an ultra-rare disease and a subtype of a urea cycle disorder (UCD). 
In this video, Dr Batzios explains what arginase 1 deficiency is and the impact of the disease. 

Learn more about arginase 1 deficiency at www.arg1dinfo.com

Transcript of the video
Transcript of the video

I am Dr. Spyros Batzios and I work in Great Ormond Street Hospital in London, which is the biggest pediatric hospital in the UK.

Arginase 1 deficiency rare progressive debilitating disorder which belongs in the group of inborn errors of metabolism, and it is one of the urea cycle disorders where basically you have a problem in processing ammonia in your body.

It results from a deficiency of an enzyme, a protein which is called arginase 1, and it is responsible for one of the steps in the process of breaking down the ammonia.

The result of the enzyme deficiency is that you have high arginine levels in your blood and in your cerebrospinal fluid. 

And this is the first step, the trigger, which causes a lot of biochemical dysfunction inside your body and which then leads to the symptoms of the disease which are mainly neurological.

Due to symptoms being unspecific and the rarity of the disease, diagnosis is the greatest challange of arginase 1 deficiency.

Persitently elevated levels of arginine are key drivers of disease manufestations including progressive spasticity, developmental delay, seizuresm and potentially early mortality.

Early detection of arginase 1 deficiency is critical to slowing the progression of the disease and enabling it to be managed as effectively as possible.

So in order to prevent misdiagnosis of the patients, I think that what we need to do is to raise awareness among all those health professionals that are dealing with patients that have developmental delays spasticity or epilepsy, in order to think of arginase deficiency whenever they have a patient in front of them that has this symptoms.