N Acetylaspartate Deficiency C3279716
A rare metabolic brain condition where the body cannot properly produce or use N-acetylaspartate, leading to neurological symptoms. Management involves supportive neurological care.
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.
Developmental delay
(nervous)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Seizures
(nervous)Hypotonia
(nervous)White matter abnormalities on MRI
(nervous)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
Aspartate-restricted diet
Implementation of a specialized dietary approach limiting aspartate-rich foods to reduce metabolic stress on neurological pathways. Regular monitoring of nutritional adequacy ensures proper growth and development while maintaining dietary restrictions.
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Regular neurological monitoring
Scheduled neuroimaging and neurodevelopmental assessments track disease progression and treatment efficacy over time. Early detection of changes allows for timely intervention adjustments.
Additional treatment options
Neurodevelopmental therapy
Targeted physical and occupational therapy addresses motor delays and supports functional independence. Sessions focus on strength, coordination, and adaptive skills.
physical_therapySymptomatic pharmacological management
Medications address specific neurological symptoms such as seizures or movement disorders on an as-needed basis. Treatment is individualized based on presenting symptoms and response.
medicationCognitive and behavioral support
Neuropsychological evaluation and ongoing counseling support cognitive development and address behavioral challenges associated with the condition. Family counseling may be beneficial.
psychologicalWhen 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 N Acetylaspartate Deficiency C3279716?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat N Acetylaspartate Deficiency C3279716. 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