Arginase is an enzyme that helps break down nitrogen, a waste product of the body’s protein metabolism. Nitrogen is converted into urea and then excreted from the body through urine. There are five other enzymes that help complete the process.
If a person has arginase deficiency, the nitrogen isn’t broken down and ammonia builds up in the blood.
If you’ve ever gotten a nose full of the distinctive smell of ammonia, you know this can’t be good.
Thanks to the growing prevalence of newborn screening, children born with the disorder are being diagnosed almost immediately; making early treatment possible, and affording them a better quality of life.
In the past, these children weren’t diagnosed until they were between the ages of one and three. Sadly, almost all children with arginase deficiency suffer from seizures and stunted growth.
Parents who suspect their child may have this inherited autosomal recessive disorder should consult with a metabolic specialist.
These healthcare professionals are usually associated with hospital-based metabolic clinics. Complementary care is often sought from a metabolic nutritionist and a genetic counselor.
Treatments include administering replacement enzymes and adhering to a low protein diet.
Currently, new studies are underway.
One pharma company, Aeglea Biotherapeutics, is testing a replacement enzyme called AEB110. Because the study has already had good results, the FDA has put AEB110 on the fast track to approval, which is good news for people who suffer from arginase deficiency.
