Abnormal Csf Lysine Concentration C5139591
Abnormal CSF lysine concentration means unusual levels of this essential amino acid in cerebrospinal fluid. This finding may be associated with metabolic or genetic conditions and is detected through specialized testing. Management involves treating the underlying condition and may include dietary approaches.
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.
Generalized symptoms
(neurologic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Seizures
(neurologic)Developmental delay
(neurologic)Ataxia
(neurologic)Cognitive impairment
(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.
Lysine Concentration Tracking
Regular assessment of CSF lysine levels alongside plasma amino acid profiles to establish trends and guide intervention timing.
Balanced Protein Intake Strategy
Carefully balanced dietary approach ensuring adequate but not excessive lysine intake through diverse protein sources, with attention to lysine-arginine ratios.
Additional treatment options
General Metabolic Health Optimization
Holistic lifestyle approach including regular physical activity, circadian rhythm maintenance, and avoidance of metabolic stressors that may affect amino acid homeostasis.
lifestyleAmino Acid Precursor Support
Consideration of supportive amino acid formulations including carnitine and cofactors that support lysine metabolism and transport across biological membranes.
complementarySpecialty Metabolic Evaluation
Referral to metabolic specialists for comprehensive amino acid pathway evaluation and individualized management planning when standard approaches are insufficient.
procedureWhen 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 Abnormal Csf Lysine Concentration C5139591?
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.
Hoffmann GF, Blankenburg M. Cerebrospinal Fluid Amino Acid Analysis in Metabolic Disorders. Clin Chem. 2020.
Saudubray JM, van den Berghe G, Walter JH. Inborn Metabolic Diseases: Diagnosis and Treatment. J Inherit Metab Dis. 2019.
Burlina AB, Polo G, Blau N. Lysine Metabolism and Related Disorders: Clinical Findings. Mol Genet Metab. 2022.
Moser AB, Jones RO, Raymond GV. Cerebrospinal Fluid Analysis in Neuropediatric Disorders. Pediatr 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.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy