Lumbar Puncture Can Help Diagnose AADC

Emily Malcolm, PhD avatar

by Emily Malcolm, PhD |

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AADC deficiency diagnosis

A lumbar puncture (also called a spinal tap) is a test that can help diagnose aromatic L-amino acid decarboxylase (AADC) deficiency.

AADC deficiency is an extremely rare disease with symptoms that generally appear in the first year of life, including developmental delay, muscle weakness, and involuntary movements. It is caused by mutations in the gene that provides instructions for making AADC — an essential enzyme for the production of signaling molecules in the brain called neurotransmitters.

What is a lumbar puncture?

A lumbar puncture is a procedure in which a needle is inserted into the spine to collect a sample of cerebrospinal fluid — the liquid that surrounds the brain and spinal cord. From this sample, the levels of neurotransmitters can be measured. The procedure takes about half an hour and is carried out under light sedation or local anesthesia (to numb the area where the needle will be inserted).

How a lumbar puncture helps diagnose AADC

The levels of specific neurotransmitters in the cerebrospinal fluid are measured, and if they’re found to be abnormal, the patient may have AADC deficiency. Any changes in the cerebrospinal fluid can help physicians rule out other neurological disorders.

What happens after the procedure?

After the lumbar puncture, the child must lay still for about an hour in the recovery room to minimize the risk of a headache before going home. Complications are rare but may include infection, bleeding, nerve damage, and headache.

It may take a few days to get the results of the procedure. The doctor will then meet with the patient’s parents to discuss test results and plan steps for treatment.


Last updated: August 8, 2019


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