Getting your child tested
What to expect
If your child has weak muscle tone and delayed development, the doctor may perform a range of tests such as an MRI, a CT scan, or an EEG to look for problems in the brain. If these tests do not seem to suggest a diagnosis, the doctor may do additional tests:
Lumbar puncture for CSF neurotransmitter metabolite panel
Neurotransmitters allow the cells in the nervous system to talk to each other. This test measures the levels of some of the metabolites, or precursors and byproducts, of neurotransmitters. The test is done by collecting some of the fluid in the spine, which is known as a lumbar puncture or spinal tap
Blood test for plasma AADC enzyme activity
This test measures the amount of activity of the AADC enzyme, which is reduced in patients with AADC Deficiency
Your child’s doctor may recommend genetic testing to look for a mutation, or change, in the DDC gene
Your child’s doctor may also order other tests that will be helpful in diagnosing your child, including blood and urine tests.
Do you and your child’s doctor suspect AADC Deficiency?
No-cost diagnostic testing is available for eligible patients, which includes plasma 3-OMD measurement, AADC enzyme activity analysis, and DDC gene sequencing. Download a helpful fact sheet for your child’s doctor on the Resources page.Visit Resources
3-OMD=3-O-methyldopa; AADC=aromatic L-amino acid decarboxylase; CSF=cerebrospinal fluid; CT=computed tomography; DDC=dopa decarboxylase; EEG=electroencephalogram; MRI=magnetic resonance imaging.
What types of doctors can diagnose AADC Deficiency?
Movement Disorder Specialist