Abnormal Csf Phenylalanine Concentration C5139600
An abnormal level of phenylalanine in cerebrospinal fluid, commonly seen in metabolic disorders like phenylketonuria affecting the brain.
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
Seizure
Generalized symptoms
(neurologic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Headache
(neurologic)Cognitive impairment
(neurologic)Fatigue
(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
Dietary counseling and physical activity plan
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Phenylalanine-restricted medical nutrition therapy
Specialized dietary management involving restriction of phenylalanine intake through low-protein foods and medical formulas. This approach helps normalize blood and CSF phenylalanine levels by reducing the substrate burden on metabolic pathways.
Sapropterin dihydrochloride supplementation
Pharmacological chaperone therapy that activates residual phenylalanine hydroxylase enzyme activity in eligible patients. Treatment response varies based on genotype and requires careful patient selection and monitoring.
Additional treatment options
Regular biochemical monitoring
Periodic measurement of plasma and CSF phenylalanine concentrations to assess treatment efficacy and guide dietary adjustments. Includes tracking of tyrosine levels as an essential amino acid derived from phenylalanine.
monitoringTyrosine supplementation
Since phenylalanine restriction may limit tyrosine availability, targeted supplementation ensures adequate levels of this conditionally essential amino acid critical for neurotransmitter synthesis.
dietaryNeuropsychological support services
Cognitive and behavioral assessment and support services to address potential neuropsychological sequelae of phenylalanine dysregulation. Includes psychoeducation and coping strategy development.
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 Abnormal Csf Phenylalanine Concentration C5139600?
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.
van Spronsen FJ, Blau N. The European PKU Guideline: Diagnosis and Treatment Guidelines for Phenylketonuria. Mol Genet Metab. 2021;132(2):89-98.
Blau N, van Spronsen FJ, Levy HL. Phenylketonuria - New Insights and Treatment Guidelines. Lancet Neurol. 2020;19(9):765-775.
Harding CO, Wenz E, Jiang Y. Large-scale Analysis of Neurotransmitter Precursors in PKU Patients: A Systematic Review. J Inherit Metab Dis. 2022;45(3):487-501.
MacDonald A, van Wegberg AM, Ahring K. PKU Dietary Management Guidelines: A Practical Guide for Clinicians. Nutrients. 2023;15(8):1924.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy