Rare Endocrinology News
5 Facts you should know about
Arginase deficiency
1
Untreated children may exhibit seizures, spasticity, short stature and intellectual disability
2
Most affected infants are now identified at birth through newborn screening
3
Ammonia levels can vary according to the patient’s current age and status, presenting initially with reduction of growth and moving to milestone development and cognition
4
Most patients develop moderate to severe neurological damage, leading to poor quality of life
5
Chronic treatment consists of protein restriction along with nitrogen-scavenging medications
Rare Endocrinology News
Advertisement