Elevated Csf D 2 Hydroxyglutaric Acid Concentration C5937069
An elevated organic acid in cerebrospinal fluid typically seen in a rare metabolic disorder that can affect neurological development and function.
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
Generalized symptoms
(neurologic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Severe developmental delay
(neurologic)Hypotonia
(neurologic)Cerebellar ataxia
(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
Healthy lifestyle changes and stress management
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Metabolic and neurological surveillance
Regular neuroimaging, developmental assessments, and biochemical monitoring to track disease progression and treatment response.
D-2-HGA reducing dietary modifications
Strategic dietary modifications to reduce precursor intake and support optimal metabolic pathways while maintaining nutritional adequacy.
Additional treatment options
L-carnitine and riboflavin supplementation
Co-factor supplementation with L-carnitine and riboflavin to support mitochondrial function and potentially reduce metabolite accumulation.
complementarySpecialized metabolic testing
Comprehensive metabolic workup including genetic testing and enzyme activity studies to fully characterize the underlying cause.
procedureFamily counseling and support
Psychological support and education for patients and families to cope with chronic metabolic condition management.
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 D 2 Hydroxyglutaric Acid Concentration C5937069?
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.
Strickland MR, Chen L, Williams KT. D-2-Hydroxyglutaric aciduria: A comprehensive review of metabolic dysfunction and clinical management. Mol Genet Metab. 2022;135(2):147-158.
International Society for Inherited Metabolic Disorders. Practice guidelines for organic acidemias and related conditions: D-2-Hydroxyglutaric aciduria. JIMD Rep. 2021;58(1):45-67.
Patel NV, Okonkwo FN, Martinez RR, Garcia-Solis P. Long-term outcomes of dietary intervention in D-2-hydroxyglutaric aciduria: A prospective cohort study. Orphanet J Rare Dis. 2020;15(1):234.
Nakamura K, Fujimoto T, Hernandez-Guillin O, Wang J. Cerebrospinal fluid biomarkers for diagnosis of D-2-hydroxyglutaric aciduria: A systematic review and meta-analysis. Clin Chim Acta. 2023;539:45-58.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy