Overview
Aromatic L-amino acid decarboxylase deficiency, also known as AADC deficiency, is a rare inherited disorder that affects how the brain and nervous system work. It is caused by problems with an enzyme called aromatic L-amino acid decarboxylase, which the body needs to make important chemical messengers called neurotransmitters. These messengers — including dopamine, serotonin, epinephrine, and norepinephrine — help nerve cells communicate with each other and control movement, mood, sleep, and many automatic body functions. When this enzyme does not work properly, the brain cannot produce enough of these chemical messengers. This leads to a wide range of symptoms that usually appear in the first few months of life. The most noticeable problems involve movement — children often have very weak muscle tone (called hypotonia), difficulty controlling their movements, and episodes of abnormal eye or body movements called oculogyric crises. Many children also have developmental delays, feeding difficulties, and problems with automatic body functions like sweating, temperature control, and blood pressure. Treatment has historically focused on managing symptoms using medications that try to compensate for the missing neurotransmitters. In 2023, the FDA approved the first gene therapy for AADC deficiency, called eladocagene exuparvovec (Upstaza), which delivers a working copy of the affected gene directly into the brain. This represents a major step forward, though access and long-term outcomes are still being studied.
Also known as:
Key symptoms:
Very low muscle tone (floppy baby appearance)Difficulty controlling voluntary movementsEpisodes of abnormal eye rolling or eye deviation (oculogyric crises)Developmental delays — delayed sitting, standing, and walkingFeeding difficulties and poor weight gainExcessive sweatingRunny nose without illnessDrooping eyelids (ptosis)Irritability and crying episodesTemperature instabilityLow blood pressureSleep disturbancesLimited or absent speech developmentSmall or constricted pupils
Clinical phenotype terms (38)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
5 eventsKebilidi: FDA approved
treatment of adult and pediatric patients with aromatic L-amino acid decarboxylase (AADC) deficiency
Shanghai Vitalgen BioPharma Co., Ltd. — PHASE1
Shanghai Jiao Tong University School of Medicine — EARLY_PHASE1
PTC Therapeutics — PHASE2
Krzysztof Bankiewicz — PHASE1
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableKebilidi
treatment of adult and pediatric patients with aromatic L-amino acid decarboxylase (AADC) deficiency
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Aromatic L-amino acid decarboxylase deficiency.
Community
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Start the conversation →Latest news about Aromatic L-amino acid decarboxylase deficiency
Disease timeline:
New recruiting trial: A Single-Stage, Adaptive, Open-label, Dose Escalation Safety and Efficacy Study of AADC Deficiency in Pediatric Patients
A new clinical trial is recruiting patients for Aromatic L-amino acid decarboxylase deficiency
New recruiting trial: An Early Clinical Trial to Evaluate VGN-R09b for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency.
A new clinical trial is recruiting patients for Aromatic L-amino acid decarboxylase deficiency
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Is my child a candidate for gene therapy, and what would the process involve?,What medications are available to help manage oculogyric crises, and how should I respond if one happens at home?,What therapies — physical, occupational, or speech — should my child be receiving, and how often?,Are there any clinical trials or research studies my child could participate in?,What signs should prompt me to seek emergency care?,Should other family members be tested to see if they are carriers?,What support services or patient organizations can help our family?
Common questions about Aromatic L-amino acid decarboxylase deficiency
What is Aromatic L-amino acid decarboxylase deficiency?
Aromatic L-amino acid decarboxylase deficiency, also known as AADC deficiency, is a rare inherited disorder that affects how the brain and nervous system work. It is caused by problems with an enzyme called aromatic L-amino acid decarboxylase, which the body needs to make important chemical messengers called neurotransmitters. These messengers — including dopamine, serotonin, epinephrine, and norepinephrine — help nerve cells communicate with each other and control movement, mood, sleep, and many automatic body functions. When this enzyme does not work properly, the brain cannot produce enoug
How is Aromatic L-amino acid decarboxylase deficiency inherited?
Aromatic L-amino acid decarboxylase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Aromatic L-amino acid decarboxylase deficiency typically begin?
Typical onset of Aromatic L-amino acid decarboxylase deficiency is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Aromatic L-amino acid decarboxylase deficiency?
Yes — 3 recruiting clinical trials are currently listed for Aromatic L-amino acid decarboxylase deficiency on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Aromatic L-amino acid decarboxylase deficiency?
25 specialists and care centers treating Aromatic L-amino acid decarboxylase deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Aromatic L-amino acid decarboxylase deficiency?
1 patient support program are currently tracked on UniteRare for Aromatic L-amino acid decarboxylase deficiency. See the treatments and support programs sections for copay assistance, eligibility, and contact details.