Diagnosis and detection of ARG1-D
Early detection of ARG1-D is critical and can help patients get the treatment they need
You may need a combination of tests:
- Newborn screening (available only in certain countries)
- A blood test for amino acids to see if high levels of arginine are present
- Genetic testing which can confirm an ARG1-D diagnosis
Sometimes ARG1-D can be missed or misdiagnosed as other conditions such as cerebral palsy or hereditary spastic paraplegia as the manifestations of ARG1-D often mimic those of other neurologic and neurometabolic disorders.