About Aromatic L-Amino Acid Decarboxylase Deficiency
Aromatic L-Amino Acid Decarboxylase (AADC) deficiency is a neurometabolic disorder caused by pathogenic variants in the DDC gene, which encodes an enzyme responsible for producing several critical neurotransmitters. These include dopamine, serotonin, and related molecules that regulate movement, mood, sleep, and autonomic body functions. When the AADC enzyme doesn't work properly, the brain cannot produce adequate amounts of these essential chemicals.
Infants with AADC deficiency typically show signs within the first 6 months of life, starting with feeding difficulties and low muscle tone. As they grow, they develop characteristic oculogyric crises (involuntary upward-rolling eye movements), severe developmental delays, and progressive movement disorders. Many also experience significant autonomic dysfunction, including excessive sweating, difficulty regulating body temperature, and blood pressure fluctuations.
Diagnosis involves genetic testing for DDC gene variants and cerebrospinal fluid analysis showing abnormal neurotransmitter levels. A major breakthrough came with FDA accelerated approval of Kebilidi (eladocagene exuparvovec-tneq) in November 2024, a gene therapy that delivers a healthy copy of the DDC gene directly into the brain.
Common Symptoms of Aromatic L-Amino Acid Decarboxylase Deficiency
Recognizing the signs of Aromatic L-Amino Acid Decarboxylase Deficiency early can lead to faster diagnosis and better outcomes. Symptoms may vary in severity from person to person. If you or a loved one are experiencing any of the following, consider speaking with a specialist.
- Low muscle tone (hypotonia) and poor feeding
- Involuntary upward-rolling eye movements (oculogyric crises)
- Developmental delays and intellectual disability
- Movement disorders including dystonia
- Autonomic dysfunction: excessive sweating, temperature instability, drooping eyelids
- Sleep disturbances and mood changes including irritability
Who Aromatic L-Amino Acid Decarboxylase Deficiency Affects
AADC deficiency typically appears in infancy, with symptoms emerging within the first 6 months of life. The condition follows autosomal recessive inheritance, meaning both parents must carry a variant in the DDC gene. It affects males and females equally and is more prevalent in people of Asian descent, particularly those with ancestry from Taiwan, Japan, and China.
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FDA-Approved Treatments for Aromatic L-Amino Acid Decarboxylase Deficiency
There is currently 1 FDA-approved medication for Aromatic L-Amino Acid Decarboxylase Deficiency. These therapies represent the current standard of care and may be used alongside or compared against investigational treatments in active clinical trials.
Source: openFDA drug labeling data. This list may not include all treatments. Always consult your doctor.
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Genetic Testing
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Trusted Aromatic L-Amino Acid Decarboxylase Deficiency Resources
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