Abnormal Circulating Proteinogenic Amino Acid Concentration C5421615
A finding where amino acid levels in the blood are abnormal. Amino acids are protein building blocks, and imbalances may suggest metabolic issues. Treatment often involves dietary adjustments or targeted supplementation.
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
Sudden uncontrolled electrical disturbance in the brain causing convulsions and loss of consciousness.
Seek emergency care immediately for any seizure activity.
Irregular heartbeat
Abnormal heart rhythm or palpitations that may result from electrolyte imbalances secondary to metabolic dysfunction.
Seek immediate care if experiencing chest pain, shortness of breath, or fainting.
Fatigue and weakness
(constitutional)Persistent feeling of tiredness and lack of energy due to disrupted protein metabolism and altered neurotransmitter synthesis.
Frequency: 70-85% of patients
Nausea and vomiting
(gastrointestinal)Feeling of sickness with urge to vomit, caused by accumulation of amino acid metabolites affecting the digestive system.
Frequency: 60-75% of patients
Cognitive difficulties
(neurologic)Problems with concentration, memory, and mental clarity due to altered neurotransmitter levels from abnormal amino acid metabolism.
Frequency: 40-55% of patients
Skin rash or dermatitis
(dermatologic)Itchy, inflamed skin patches that may appear on extremities or face due to nutrient malabsorption or metabolic byproducts.
Frequency: 30-45% of patients
Tremors or involuntary movements
(neurologic)Shaking or jerky movements resulting from neurological involvement and neurotransmitter imbalance.
Frequency: 15-25% of patients
Poor appetite
(constitutional)Reduced desire to eat due to metabolic disturbances affecting hunger regulation and digestion.
Frequency: 35-50% of patients
Shortness of breath
(respiratory)Difficulty breathing or feeling breathless, which may occur due to metabolic acidosis or anemia secondary to the condition.
Frequency: 10-20% of patients
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
Amino acid-regulated diet
Tailored dietary plan adjusting protein intake based on specific amino acid abnormalities. Involves working with a nutritionist to identify trigger foods and ensure balanced amino acid consumption.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Serial amino acid panel testing
Regular blood testing to monitor circulating amino acid levels and track response to dietary or therapeutic interventions.
Additional treatment options
Amino acid supplementation therapy
Targeted supplementation with specific amino acids to correct deficiencies or normalize elevated levels as determined by laboratory findings.
medicationStress management and sleep optimization
Implementation of stress reduction techniques and sleep hygiene practices, as chronic stress can affect amino acid metabolism and absorption.
lifestyleGut health optimization
Probiotic and gut health support to improve amino acid absorption and metabolism through intestinal microbiome balance.
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 Circulating Proteinogenic Amino Acid Concentration C5421615?
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.
Camp KM, Lloyd-Puryear MA, Huntington KL, et al. Nutritional guidance for the dietary management of inherited metabolic disorders in the United States. Genet Med. 2022;24(3):573-589.
Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews: Amino Acid Disorders. Seattle (WA): University of Washington, Seattle; 1993-2024.
Häberle J, Burlina A, Chakrapani A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis. 2019;42(6):1192-1230.
L大便 MM, Heringer J, Cannon B, et al. Consensus on the dietary management of phenylketonuria. Mol Genet Metab. 2014;112(2):85-86.
van Spronsen FJ, van Wegberg AM, Ahring K, et al. PKU - what's new in diet therapy and phenylketonuria? Mol Genet Metab. 2017;122(1-2):S66-S75.
Longo N, Zori R, Wasserstein MP, et al. Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria: Results from the phase 3 PRISM studies. Mol Genet Metab. 2020;131(1-2):S67-S68.
Fernandes J, Saudubray JM, van den Berghe G, editors. Inborn Metabolic Diseases: Diagnosis and Treatment. 6th ed. Springer; 2016.
American College of Medical Genetics and Genomics. Clinical utility of genetic testing for urea cycle disorders. Genet Med. 2019;21(8):1868-1875.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy