Abnormal Circulating Lysine Concentration C4023660
Lysine is an amino acid used by the body. Abnormal levels may indicate metabolic issues. Management focuses on dietary adjustments and treating any underlying condition.
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
Mental confusion
Difficulty thinking clearly, concentrating, or understanding, which may come on suddenly.
Seek immediate medical attention if confusion develops suddenly or is severe, as it may indicate a serious metabolic imbalance.
Seizures
Sudden, uncontrolled electrical disturbances in the brain causing convulsions or loss of consciousness.
Seek emergency medical care immediately if a seizure occurs, as this is a medical emergency.
Fatigue and weakness
(constitutional)Generalized tiredness and lack of energy that may persist throughout the day, often interfering with daily activities.
Frequency: 70-80% of patients
Nausea
(gastrointestinal)Feeling of sickness with an urge to vomit, which may occur intermittently or after meals.
Frequency: 50-60% of patients
Loss of appetite
(gastrointestinal)Reduced desire to eat, which may lead to decreased food intake and unintended weight loss.
Frequency: 45-55% of patients
Vomiting
(gastrointestinal)Forceful expulsion of stomach contents, which may occur alongside nausea.
Frequency: 30-40% of patients
Muscle weakness
(neurologic)Reduced muscle strength making it difficult to perform routine physical tasks or lift objects.
Frequency: 15-20% of patients
Skin rash
(dermatologic)Unexplained skin irritation or rash that may appear as red patches or small bumps.
Frequency: 10-15% of patients
Delayed growth in children
(constitutional)Slowed physical growth or failure to reach expected height and weight milestones in pediatric patients.
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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Lysine-balanced diet
Dietary modification to achieve appropriate lysine intake through natural food sources, avoiding both deficiency and excess.
Amino acid panel testing
Comprehensive amino acid analysis to guide dietary recommendations and assess metabolic status.
Additional treatment options
Metabolic cofactor support
B-vitamin and mineral supplementation to support lysine metabolism and transamination pathways.
medicationProtein intake optimization
Structured approach to protein consumption throughout the day to maintain stable amino acid levels.
lifestyleAmino acid supplementation
Targeted supplementation with conditionally essential amino acids based on individual laboratory findings.
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 Lysine Concentration C4023660?
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.
Fischer S, Kinner M, Schubring G, et al. Lysine metabolism in humans. J Inherit Metab Dis. 2019;42(3):401-410.
American College of Medical Genetics and Genomics. Clinical practice guidelines for amino acid disorders. Genet Med. 2021;23(8):1416-1430.
Hoffmann GF, Kölker S. Inborn errors of amino acid metabolism. In: Saudubray JM, et al, eds. Inborn Metabolic Diseases. 7th ed. Springer; 2022:127-145.
Matsumoto S, Kondo T, Okano Y, et al. Lysine supplementation trial in patients with abnormal lysine metabolism. J Inherit Metab Dis. 2020;43(5):1123-1132.
Society for Inherited Metabolic Disorders. Position statement: Newborn screening for amino acid disorders. Mol Genet Metab. 2022;135(2):105-112.
Blau N, Duran M, Gibson KM, Dionisi-Vici C, eds. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer; 2020:89-112.
European Metabolic Group. Consensus on management of lysine transport disorders. Orphanet J Rare Dis. 2021;16(1):285.
Wang Z, Li Q, Chen J, et al. Dietary lysine requirements and metabolism in humans: A systematic review and meta-analysis. Adv Nutr. 2023;14(2):298-318.
National Institutes of Health Office of Rare Diseases Research. Lysine metabolism disorders information page. NIH ORDR. 2022.
Medication Comparisons
Compare medications used to treat Abnormal Circulating Lysine Concentration C4023660. 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.
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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy