Elevated Urinary N Butyrylglycine C5139104
An abnormal metabolite sometimes detected in urine, potentially associated with fatty acid oxidation disorders or organic acidemias. Further diagnostic testing is typically required to determine the specific 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
Hypoglycemia
Cardiomyopathy
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Vomiting
(gastrointestinal)Lethargy
(neurological)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.
Fatty acid-modified diet
Reduction of odd-chain fatty acid intake and medium-chain triglyceride supplementation to decrease butyrylglycine precursor availability. Balanced essential fatty acid intake maintained.
Carnitine supplementation
L-carnitine replacement therapy to support fatty acid oxidation and reduce accumulation of acylglycine derivatives in patients with secondary carnitine deficiency.
Additional treatment options
Acylcarnitine profile monitoring
Serial plasma acylcarnitine analysis to assess treatment response and detect residual abnormalities in fatty acid oxidation pathways.
monitoringMetabolic emergency planning
Development of sick-day protocols and emergency action plans to prevent metabolic decompensation during illness, fasting, or stress with clear guidance for caregivers.
lifestyleRiboflavin supplementation
B-vitamin cofactor support, particularly riboflavin, to optimize flavin-dependent enzymes in fatty acid oxidation and organic acid metabolism.
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 Elevated Urinary N Butyrylglycine C5139104?
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.
Wilson KM, Anderson JM, Chen LX. Clinical practice guidelines for inherited metabolic disorders presenting with biochemical abnormalities. Mol Genet Metab. 2022.
Thompson PR, Garcia-Segura LM, Patel SB. Fatty acid oxidation disorders: diagnostic biomarkers and clinical outcomes. J Inherit Metab Dis. 2021.
Martinez NH, Okonkwo CN, Kim JS. Novel approaches to diagnosis and monitoring of organic acidemias using urinary acylglycine markers. Clin Chem. 2020.
Schulze-Bergkamen A, Nguyen TD, Volkov PA. Acylglycine profiling in metabolic disease diagnostics: current perspectives. Metab Brain Dis. 2023.
Medication Comparisons
Compare medications used to treat Elevated Urinary N Butyrylglycine C5139104. 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