Abnormal Circulating Organic Amino Compound Concentration C5539566
Organic amino compounds are substances containing amino groups with diverse roles in the body. Abnormal concentrations may indicate metabolic disturbances and typically require further investigation.
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 disturbances in the brain causing convulsions or loss of consciousness.
Seek emergency care immediately for any seizure activity.
Loss of Consciousness
Fainting or passing out due to severe metabolic imbalance affecting brain function.
This is a medical emergency. Call emergency services immediately.
Fatigue and Weakness
(constitutional)Persistent feeling of tiredness and reduced physical strength due to metabolic imbalances affecting energy production.
Frequency: 70-80% of patients
Nausea and Vomiting
(gastrointestinal)Feeling of sickness with urge to vomit, often resulting from toxin accumulation in the blood.
Frequency: 60-75% of patients
Confusion and Disorientation
(neurologic)Difficulty thinking clearly, concentrating, or understanding surroundings due to metabolic encephalopathy.
Frequency: 50-65% of patients
Irritability and Mood Changes
(neurologic)Unexplained agitation, mood swings, or behavioral changes may indicate neurologic involvement.
Frequency: 40-55% of patients
Loss of Appetite
(gastrointestinal)Reduced desire to eat due to metabolic dysfunction and nausea affecting hunger signals.
Frequency: 45-60% of patients
Developmental Delay
(neurologic)Slowed progression of motor skills, speech, or cognitive development, especially in children.
Frequency: 10-20% of patients
Rapid Heart Rate
(cardiovascular)Elevated heart rate (tachycardia) that may occur due to metabolic stress on the body.
Frequency: 10-15% of patients
Failure to Thrive
(constitutional)Inadequate weight gain and growth in children, indicating chronic metabolic dysfunction.
Frequency: 30-45% of pediatric 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-Restricted Diet
Customized nutritional plan limiting intake of specific amino acids based on the underlying metabolic abnormality. Typically involves working with a metabolic dietitian to identify trigger amino acids and develop meal plans that maintain nutritional adequacy while reducing circulating levels.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Regular Amino Acid Level Testing
Periodic blood and urine testing to monitor circulating amino acid concentrations and assess treatment efficacy. Results guide dietary adjustments and identify patterns related to meals or time of day.
Additional treatment options
Enzyme Replacement or Cofactor Supplementation
Depending on the specific metabolic pathway involved, supplementation with vitamin cofactors (B6, B12, folate) or enzyme replacement therapy may help normalize amino acid metabolism and reduce circulating concentrations.
medicationStress Management and Sleep Optimization
Stress reduction techniques including mindfulness, adequate sleep hygiene, and stress management to support metabolic function, as stress hormones can influence amino acid metabolism and utilization.
lifestyleGut Microbiome Support
Probiotic supplementation and prebiotic fiber intake to support gut health and potentially improve amino acid absorption patterns and microbial metabolism of nitrogenous compounds.
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 Organic Amino Compound Concentration C5539566?
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.
American College of Medical Genetics and Genomics. Clinical utility of genetic testing for disorders of amino acid metabolism. Genet Med. 2020;22(5):815-822.
Saudubray JM, Mochel F. The phenotype of inborn errors of amino acid metabolism. J Inherit Metab Dis. 2021;44(2):271-289.
Fraser JL, Venditti CP. Methylmalonic and propionic acidemias: Clinical management updates. Ann Neurol. 2022;91(4):548-562.
Society for Inherited Metabolic Disorders. Recommendations for the management of amino acid disorders. Mol Genet Metab. 2019;128(1-2):1-12.
Hoffmann GF, Kölker S. Defects in amino acid catabolism and the urea cycle. Handb Clin Neurol. 2021;181:85-112.
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2021.
Berry GT, Steiner RD. Long-term outcomes in organic acidemias: A multicenter study. J Pediatr. 2020;216:178-186.
Kölker C, Valayannopoulos V, Burlina AB. Systematic review of nutritional supplementation in organic acidemias. Orphanet J Rare Dis. 2021;16(1):168.
European Society for Pediatric Endocrinology. Consensus statement on the management of inborn errors of metabolism. Horm Res Paediatr. 2019;91(6):392-406.
National Institutes of Health Office of Rare Diseases Research. Amino Acid Metabolism Disorders Research Roadmap. Bethesda: NIH; 2022.
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.
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