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.
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