D 2 Hydroxyglutaric Aciduria C1833429
A rare neurometabolic disorder where D-2-hydroxyglutaric acid builds up in the body, affecting the brain and nervous system. It causes developmental delay, movement problems, and seizures. Treatment focuses on supportive care and managing 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
Severe headache
Elevated urinary D-2-hydroxyglutarate
(metabolic)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Neurological deterioration
(neurological)Macrocephaly
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Protein-restricted metabolic diet
Carefully controlled protein intake with lysine restriction and supplementation of limiting amino acids to minimize formation of toxic metabolites while maintaining adequate nutrition for growth and tissue repair.
Riboflavin (Vitamin B2) supplementation
High-dose riboflavin serves as a cofactor for FAD-dependent enzymes and may improve mitochondrial respiratory chain function. Some patients show partial response to flavin supplementation.
Additional treatment options
Neuroimaging surveillance
Periodic MRI of the brain to monitor for progressive white matter changes, basal ganglia involvement, and other structural abnormalities commonly associated with D-2-hydroxyglutaric aciduria.
monitoringSeizure management protocol
Antiepileptic drug therapy tailored to seizure type with regular EEG monitoring. Some patients may require polytherapy for adequate seizure control given the underlying neurological involvement.
procedureAntioxidant combination therapy
Supplements including vitamin E, alpha-lipoic acid, and other antioxidants aimed at reducing oxidative stress and protecting mitochondrial function from reactive oxygen species damage.
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 2 Hydroxyglutaric Aciduria C1833429?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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