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5 Facts you should know about

Arginase deficiency

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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

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