D L 2 Hydroxyglutaric Aciduria C5574940
A rare metabolic disorder where both D and L forms of 2-hydroxyglutaric acid accumulate, affecting neurological development. It causes severe intellectual disability and motor problems. Care involves managing seizures and providing developmental support.
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
Seizures
Lactic acidosis
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(metabolic)Ataxia
(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
Metabolic stabilization therapy
Riboflavin and L-carnitine supplementation form the cornerstone of metabolic management in D-L-2-hydroxyglutaric aciduria. These cofactors support residual enzyme activity and improve cellular energy metabolism.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Neuroimaging surveillance
Regular MRI imaging monitors disease progression including white matter abnormalities and structural brain changes. Serial imaging helps guide therapeutic decisions and assess treatment response.
Additional treatment options
Seizure management protocol
Aggressive seizure control using appropriate anticonvulsants is critical given the severe phenotype. Polytherapy may be necessary in refractory cases with careful attention to drug interactions.
medicationProtein-restricted diet
Dietary protein restriction, particularly limiting lysine and tryptophan, reduces substrate availability for toxic metabolite formation. Nutrition monitoring ensures adequate growth and development while maintaining metabolic control.
dietaryAntioxidant supplementation
Antioxidant therapy including vitamin E and coenzyme Q10 may provide neuroprotective benefits by reducing oxidative stress associated with metabolite accumulation. These supplements are adjunctive to primary metabolic therapies.
complementaryWhen 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 L 2 Hydroxyglutaric Aciduria C5574940?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat D L 2 Hydroxyglutaric Aciduria C5574940. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy