D 2 Hydroxyglutaric Aciduria 2 C3150909
A rare genetic disorder causing toxic buildup of D-2-hydroxyglutaric acid in tissues, especially the brain. It leads to severe developmental problems, movement disorders, and seizures. Treatment is supportive and aims to manage individual symptoms.
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
Refractory seizures
Chest pain
Elevated D-2-hydroxyglutarate
(metabolic)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe developmental delay
(neurological)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
Anticonvulsant therapy
Seizure control is essential in D-2-hydroxyglutaric aciduria type 2 using appropriate anticonvulsant medications tailored to seizure type. Regular monitoring of seizure frequency and medication levels helps optimize therapeutic outcomes.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
L-carnitine supplementation
L-carnitine supplementation supports mitochondrial function and may help reduce toxic metabolite accumulation. Dietary modifications limiting lysine and tryptophan intake have been explored to decrease substrate availability for harmful metabolite production.
Additional treatment options
Early intervention physical therapy
Intensive physical therapy addresses hypotonia and motor delays common in this condition. Programs focus on improving muscle tone, coordination, and functional mobility through age-appropriate exercises and positioning techniques.
physical_therapyCardiac monitoring
Regular cardiac evaluation is necessary as cardiomyopathy may develop in D-2-HGA type 2. Echocardiography and ECG surveillance enable early detection of cardiac dysfunction requiring intervention.
monitoringNeurodevelopmental support services
Comprehensive neurodevelopmental evaluation and ongoing psychological support address cognitive delays and behavioral concerns. Family counseling and educational planning help optimize developmental potential and quality of life.
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 D 2 Hydroxyglutaric Aciduria 2 C3150909?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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 20, 2026. · Read our editorial policy