D 2 Hydroxyglutaric Aciduria 1 C3152055
A severe inherited metabolic condition where D-2-hydroxyglutaric acid accumulates, damaging the nervous system. Children typically show developmental delays, muscle weakness, and seizures. Management involves multidisciplinary care to address complications.
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
Vision loss
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)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
Lysine-restricted nutritional plan
Comprehensive dietary modification limiting lysine intake while ensuring adequate calories and other essential nutrients. Often implemented using specialized metabolic formulas and careful food selection.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Developmental and neurological surveillance
Regular neurodevelopmental assessments, EEG monitoring, and MRI imaging to track progression and guide interventions. Includes monitoring for movement disorders, seizures, and cognitive decline.
Additional treatment options
Gastrostomy tube placement
Surgical placement of feeding tube for patients with dysphagia, poor oral intake, or inability to meet nutritional requirements through diet alone. Ensures reliable access for medications and nutrition during illness.
surgicalMitochondrial rescue combination
Combination of L-carnitine, CoQ10, and B-vitamins designed to support multiple aspects of mitochondrial function and energy metabolism. Addresses both primary enzyme deficiency and secondary metabolic dysfunction.
medicationFamily-centered care coordination
Comprehensive care coordination addressing medical, educational, and social needs including respite care, genetic counseling, and support services for families affected by rare metabolic disorders.
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 1 C3152055?
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 Aciduria 1 C3152055. 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