D 2 Hydroxyglutaric Acidemia C4022415
A rare metabolic disorder where harmful substances accumulate in the body, affecting the brain and nervous system. It often causes developmental delays and movement problems. Treatment aims to reduce 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
Seizures
Elevated D-2-hydroxyglutarate
(metabolic)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(neurological)Cardiomyopathy
(cardiovascular)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
Amino acid-restricted diet
Reduction of lysine and tryptophan intake through special metabolic formulas and dietary modifications to decrease accumulation of toxic metabolites. Often combined with specialized medical foods.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Carglumic acid (N-carbamylglutamate)
Synthetic NAG analog that may help enhance residual enzyme function and reduce toxic metabolite accumulation. Used as adjunctive therapy to support ammonia detoxification pathways.
Additional treatment options
Metabolic crisis prevention protocol
Regular monitoring of plasma and urine organic acid levels, ammonia, and amino acids with fever management protocols and early intervention during metabolic stress to prevent decompensation.
monitoringStress avoidance and metabolic pacing
Learning to recognize personal energy limits and avoiding metabolic stressors including prolonged fasting, extreme temperatures, and excessive physical exertion that could trigger decompensation.
lifestyleNeuropsychological support services
Cognitive assessment and targeted interventions including educational support, behavioral strategies, and family counseling to address developmental delays and improve functional outcomes.
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 Acidemia C4022415?
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 2 Hydroxyglutaric Acidemia C4022415. 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