Deficiency Of Aromatic L Amino Acid Decarboxylase C1291564
AADC deficiency is a rare neurological disorder affecting the synthesis of neurotransmitters like dopamine and serotonin. Symptoms often include developmental delay, movement disorders, and autonomic problems. Treatment aims to manage symptoms and may include medication to support neurotransmitter function.
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
Autonomic dysfunction
Dystonia
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hypotonia
(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
Pharmacological replacement using dopamine agonists to compensate for the deficiency in neurotransmitter synthesis. Treatment aims to improve motor function and reduce symptoms associated with neurotransmitter insufficiency.
MAO Inhibitor Supplementation
Administration of monoamine oxidase inhibitors to reduce breakdown of existing neurotransmitters, helping to maintain adequate neurotransmitter levels in the central nervous system.
Additional treatment options
Intensive Motor Rehabilitation
Structured physical therapy program designed to maintain joint mobility, prevent contractures, and support functional movement through targeted exercises and stretching routines.
physical_therapyNeurodevelopmental Support Services
Comprehensive psychological and developmental support including behavioral interventions, cognitive therapy, and family counseling to address the psychosocial impact of the disorder.
psychologicalNeurotransmitter Level Monitoring
Regular monitoring of neurotransmitter metabolites and clinical response to guide medication adjustments and assess treatment efficacy over time.
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 Deficiency Of Aromatic L Amino Acid Decarboxylase C1291564?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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 25, 2026. · Read our editorial policy