Behind the Mystery: Arginase 1 Deficiency

Arginase 1 Deficiency is an inherited, metabolic disease that is both debilitating and progressive, leading to significant morbidity and early mortality. When there is a mutation in the ARG1 gene, it results in high levels of arginine, which is the primary cause of spasticity, loss of mobility, developmental delay, and seizures.

Currently, there are no approved treatment options. While symptom presentation begins around the age of 2, the average age of diagnosis is 6, causing a 4-year delay in diagnosis, which can lead to disease progression and worsening of clinical outcomes.

If physicians suspect a patient with Arginase 1 Deficiency, the diagnosis can be established easily and reliably with a widely available amino acid panel focused on arginine and a genetic test for the ARG1 mutation.

We met with renowned expert, geneticist Dr. Stephen Cederbaum, as well as Angela, whose 4-year-old son Isaiah is living with this disease.