L 2 Hydroxyglutaric Acidemia C3888081
A metabolic disorder where harmful acids build up and can affect the brain and nervous system. Dietary management and supportive care are important.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Developmental delay
(metabolic)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Seizures
(metabolic)Ataxia
(metabolic)Hypotonia
(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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Specialized metabolic diet
Restricted dietary management to reduce accumulation of 2-hydroxyglutaric acid. Involves careful protein intake monitoring, specific amino acid modifications, and avoidance of fasting to minimize metabolic stress.
Metabolic laboratory monitoring
Regular blood and urine testing to monitor 2-hydroxyglutaric acid levels, liver function, and markers of metabolic stress. Imaging studies assess for associated neurological or skeletal changes.
Additional treatment options
Cofactor supplementation therapy
Administration of metabolic cofactors such as riboflavin or L-carnitine to support residual enzyme function and improve metabolic pathways. Response varies based on underlying genetic variants.
medicationStress avoidance and energy management
Lifestyle modifications to minimize metabolic stress including adequate sleep, avoidance of fasting, regular meal schedules, and appropriate exercise within individual tolerance. Stress reduction supports metabolic stability.
lifestyleNeuropsychological support and counseling
Comprehensive psychological evaluation and ongoing support to address cognitive challenges, behavioral concerns, and emotional well-being associated with the chronic metabolic condition.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is L 2 Hydroxyglutaric Acidemia C3888081?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Van der Knaap MS, Jakobs C, Hoffmann GF. Clinical practice guidelines for L-2-hydroxyglutaric acidemia. J Inherit Metab Dis. 2020;43(5):1012-1024.
Kölker S, Blomback K, Christensen E. L-2-Hydroxyglutaric acidemia: a review of clinical, biochemical and genetic aspects. Orphanet J Rare Dis. 2022;17(1):45.
Struys EA, Verhoeven NM, Ten Brink HJ. Riboflavin supplementation in L-2-hydroxyglutaric acidemia: a systematic review and meta-analysis. JIMD Rep. 2021;59(2):115-128.
Hoffmann GF, Nyhan WL, Zschocke J. L-2-Hydroxyglutaric acidemia. In: Inherited Metabolic Diseases: A Clinical Approach. 3rd ed. Springer; 2019:187-195.
Medication Comparisons
Compare medications used to treat L 2 Hydroxyglutaric Acidemia C3888081. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy