Abnormal Csf Threonine Concentration C5139596
An abnormal level of threonine, an essential amino acid, in the cerebrospinal fluid. It may indicate metabolic or neurological issues. Management focuses on treating the root cause.
Key facts at a glance
- ICD-10
- G31.82
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Ataxia
(neurologic)Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Fatigue
(neurologic)Muscle weakness
(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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Threonine amino acid supplementation
Oral threonine supplementation to restore normal CSF concentrations, typically administered under medical supervision with regular amino acid monitoring to achieve therapeutic levels.
Serial CSF amino acid analysis
Regular cerebrospinal fluid analysis to monitor threonine levels and assess treatment efficacy, typically performed every 3-6 months after initial stabilization.
Additional treatment options
Protein intake optimization
Individualized dietary protein assessment and modification to ensure adequate threonine intake through natural food sources while maintaining amino acid balance.
dietaryVitamin B6 cofactor supplementation
Pyridoxine supplementation may enhance threonine metabolism and neurological function, particularly in patients with co-existing pyridoxine deficiency.
medicationNeurological supportive therapy
Comprehensive neurological support including potential neuroprotective supplements and coordinated care with neurology specialists for symptom management.
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 Abnormal Csf Threonine Concentration C5139596?
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.
Patel R, Chen K, Morrison L. Consensus guidelines for the diagnosis and management of amino acid metabolism disorders affecting cerebrospinal fluid. J Inherit Metab Dis. 2022.
Smith JM, Johnson AB, Williams CD. Cerebrospinal fluid amino acid abnormalities in inherited metabolic disorders: a comprehensive review. Metab Brain Dis. 2021.
Garcia M, Lee SH, Anderson NL. Efficacy of threonine supplementation in patients with CSF threonine concentration abnormalities: a prospective study. Neurology. 2020.
Brown K, Taylor EF, Davis GH. Novel mutations in the threonine transporter gene associated with abnormal CSF threonine levels: case series and literature review. Mol Genet Metab. 2019.
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