Behind the Mystery: Arginase 1 Deficiency
April 5, 2021
While symptom presentation begins around the age of 2, the average age of diagnosis is 6, causing a 4-year delay in diagnosis.
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.
Bringing the best tips from the experts in Atlanta in business, beauty, wealth management, child healthcare, car shopping, and more. Each year, Atlanta’s Women’s Entrepreneurship Initiative selects 15 local female entrepreneurs for a 15-month business training program. We meet women who have grown their companies, created jobs, and broke through the glass ceiling. With some […]
iMCD is the deadliest subtype of Castleman disease. Approximately one third of patients die within five years of diagnosis, and another third die within 10 years if not treated.
There are no effective treatment options for people with unresectable or metastatic chondrosarcoma despite many attempts by multiple pharmaceutical companies over the past few decades.