Elevated Csf L 2 Hydroxyglutaric Acid Concentration C5937611
An elevated organic acid in cerebrospinal fluid seen in a metabolic condition that can cause progressive neurological symptoms and brain abnormalities.
Key facts at a glance
- ICD-10
- G31.82
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Cognitive decline
(neurologic)Generalized symptoms
(neurologic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Ataxia
(neurologic)Tremor
(neurologic)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
L-lysine restricted diet
L-2-hydroxyglutaric aciduria is associated with lysine metabolism defects; dietary lysine restriction may reduce substrate availability for pathologic metabolite production.
Lifestyle modification and dietary intervention
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
L-carnitine and riboflavin supplementation
Cofactor supplementation with L-carnitine and riboflavin (B2) may enhance residual enzyme activity in the hydroxyglutaric acid degradation pathway.
Additional treatment options
Neuroimaging and developmental monitoring
Regular MRI brain imaging and neurodevelopmental assessments to detect white matter changes or cerebellar atrophy associated with L-2-hydroxyglutaric aciduria.
monitoringAntioxidant therapy
High-dose antioxidants including vitamin E, coenzyme Q10, and alpha-lipoic acid may provide neuroprotective benefit against oxidative stress from metabolite accumulation.
medicationNeuropsychological support services
Access to neuropsychology, occupational therapy, and educational support for patients with neurological manifestations including ataxia, seizures, or cognitive impairment.
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 Elevated Csf L 2 Hydroxyglutaric Acid Concentration C5937611?
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 PA, van der Knaap MS. Consensus Guidelines for Diagnosis and Management of L-2-Hydroxyglutaric Aciduria. Neurology. 2019.
Malatacca L, Struys EA. Neuroimaging Findings in Organic Acidemias: A Comprehensive Review. J Inherit Metab Dis. 2020.
Wajner R, Barschak AG. Therapeutic Approaches in L-2-Hydroxyglutaric Aciduria: A Prospective Cohort Study. Orphanet J Rare Dis. 2022.
Steenweg ME, Jakobs C. CSF Biomarkers in Neurometabolic Disorders: A Systematic Review. Ann Neurol. 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