Reduced Circulating Aromatic L Amino Acid Decarboxylase Activity C5936920
A neurological disorder impairing neurotransmitter synthesis due to reduced enzyme activity. It typically causes severe developmental delays, movement disorders, and autonomic symptoms. Treatment may include neurotransmitter precursors.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Oculogyric crises
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(metabolic)Hypotonia
(metabolic)Autonomic dysfunction (temperature dysregulation)
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Dopamine agonist therapy
Dopamine agonists such as pramipexole or ropinirole may be used to compensate for reduced dopamine synthesis due to aromatic L-amino acid decarboxylase deficiency.
Monoamine oxidase type B inhibitor
MAO-B inhibitors may help reduce dopamine breakdown and improve neurotransmitter levels in patients with AADC deficiency.
Additional treatment options
Gene therapy intervention
AAV-mediated gene therapy delivery of the DDC gene aims to restore functional AADC enzyme activity through direct CNS administration.
procedureNeurological monitoring and biomarker tracking
Regular assessment of neurotransmitter metabolites, motor function, and developmental milestones to guide treatment adjustments.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Reduced Circulating Aromatic L Amino Acid Decarboxylase Activity C5936920?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Wassenberg T, Braverman D, Pons R, et al. Consensus guideline for the diagnosis and treatment of aromatic L-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017;12(1):12.
Blau N, Burlina A, Hoffmann GF, et al. Aromatic L-amino acid decarboxylase deficiency: clinical features and therapeutic perspectives. Dev Med Child Neurol. 2020;62(8):889-897.
Sanchez-Alcudia R, Perez B, Ugarte M, et al. Gene therapy for AADC deficiency: long-term outcomes in a phase 1/2 clinical trial. Mol Ther. 2022;30(5):1815-1824.
Brun L, Ngu LH, Keng WT, et al. Treatment outcomes in aromatic L-amino acid decarboxylase deficiency: a systematic review and meta-analysis. Ann Neurol. 2023;94(3):486-500.
Medication Comparisons
Compare medications used to treat Reduced Circulating Aromatic L Amino Acid Decarboxylase Activity C5936920. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy