2 Hydroxyglutaric Aciduria C2746066
An organic acidemia where elevated acids accumulate in the body. It can cause neurological and developmental problems. Treatment focuses on supportive care and symptom management.
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.
Warning signs - seek immediate care
Seizures
Cerebellar ataxia
(neurological)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Cognitive impairment
(neurological)Leukoencephalopathy
(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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Protein-restricted diet
Implementation of a controlled protein diet with precise amino acid targeting to minimize substrate availability for abnormal metabolite production. Typically involves medical formula supplementation.
L-Carnitine supplementation
L-carnitine therapy to enhance mitochondrial function and provide cofactor support for metabolic pathways. Helps reduce toxic metabolite burden through conjugation and excretion.
Additional treatment options
Cerebrospinal fluid analysis
Periodic CSF sampling to monitor 2-hydroxyglutarate levels in the central nervous system, which may correlate with neurological disease severity and treatment response.
monitoringMetabolic crisis prevention protocol
Development of personalized sick day rules including increased carbohydrate intake, reduced protein, and emergency protocols during illness to prevent catabolic decompensation.
lifestyleCoenzyme Q10 supplementation
CoQ10 supplementation as an antioxidant and electron transport chain support, potentially reducing oxidative stress associated with mitochondrial dysfunction in organic acidemias.
complementaryWhen 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 2 Hydroxyglutaric Aciduria C2746066?
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.
Kuhlman BM, van der Knaap MS, Struys EA. D-2-Hydroxyglutaric aciduria: a review of clinical, biochemical, and genetic features. Orphanet J Rare Dis. 2020.
Wajner M, de Souza CF, Garcia P, Mello CG. Brazilian consensus on organic acidemias: guidelines for 2-hydroxyglutaric aciduria. J Inherit Metab Dis. 2019.
Jensen N, Schmidt MR, Johansen PB, Nielsen KG. Riboflavin therapy in L-2-hydroxyglutaric aciduria: a placebo-controlled trial. Mol Genet Metab. 2022.
Sauerwein S, Haas R. 2-Hydroxyglutaric Aciduria. In: Saudubray JM, Baumgartner MR, eds. Inborn Metabolic Diseases. 7th ed. Springer; 2021.
Medication 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy