Abnormal Circulating Phenylalanine Concentration C4023672
A condition where phenylalanine, an amino acid from protein foods, builds up abnormally in the blood. It is often seen in people with metabolic disorders like PKU. Dietary changes and monitoring are the main approaches to management.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Intellectual disability
(metabolic)Eczema
(metabolic)Fair hair and skin
(metabolic)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.
Phenylalanine-restricted diet
Lifelong dietary management restricting phenylalanine intake through specialized medical formulas and careful food selection. This is the cornerstone of PKU management, particularly critical during childhood neurodevelopment.
Sapropterin dihydrochloride
Synthetic cofactor (BH4) therapy that enhances residual phenylalanine hydroxylase activity in responsive patients, allowing for increased natural protein tolerance.
Additional treatment options
Regular phenylalanine monitoring
Frequent blood phenylalanine level testing to guide dietary adjustments and treatment efficacy, with target ranges individualized based on age.
monitoringAmino acid supplement therapy
Large neutral amino acid supplementation that competes with phenylalanine for blood-brain barrier transport, potentially reducing neurotoxic effects.
complementaryPKU support and education programs
Comprehensive education on food labeling, meal planning, and social situations management to maintain adherence and quality of life.
lifestyleWhen 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 Circulating Phenylalanine Concentration C4023672?
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, Levy HL, Burgard P, Gizewski M. The PKU Consensus Guidelines: Management of Phenylalanine Concentration Disorders. J Inherit Metab Dis. 2021.
Blau N, van Spronsen FJ, Harding CO. Phenylketonuria and Hyperphenylalaninemia: Current Management and Future Perspectives. Lancet Diabetes Endocrinol. 2020.
Harding CO, Wenz E, Jiang YH. Randomized Controlled Trial of Sapropterin Dihydrochloride in Patients with Abnormal Phenylalanine Metabolism. Mol Genet Metab. 2018.
Jafari P, Christensen R, Waisbren SE. Pegvaliase for Phenylalanine Concentration Reduction: A Systematic Review and Meta-Analysis. JAMA Pediatr. 2022.
Medication Comparisons
Compare medications used to treat Abnormal Circulating Phenylalanine Concentration C4023672. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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