Elevated Urinary Gamma Glutamylphenylalanine Level C5937093
A metabolic marker that may indicate a rare enzyme deficiency affecting how the body processes certain amino acids. It is typically found during newborn screening or metabolic testing. Management involves dietary modifications and close specialist monitoring.
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
Metabolic acidosis
Neurological impairment
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Failure to thrive
(metabolic)Fatigue
(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
Baseline and follow-up metabolic panel
Comprehensive metabolic assessment including kidney and liver function to characterize the metabolic context of elevated gamma-glutamylphenylalanine. Repeat testing monitors trajectory.
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Glutathione-supportive nutrition
Increase intake of sulfur-containing amino acids through protein sources like eggs, poultry, and legumes to support optimal glutathione synthesis and potentially normalize metabolite patterns.
Additional treatment options
Oxidative stress reduction
Implement lifestyle modifications to reduce oxidative burden including smoking cessation, antioxidant supplementation consideration, and environmental toxin avoidance that may stress glutathione systems.
lifestyleSelenium and vitamin E evaluation
Assess and optimize selenium and vitamin E status as cofactors in glutathione metabolism. These nutrients support the antioxidant enzyme systems that process gamma-glutamyl amino acids.
complementarySpecialized amino acid panel
Expanded amino acid analysis helps characterize the metabolic pattern and distinguish isolated finding from broader amino acid metabolism abnormalities requiring specific intervention.
procedureWhen 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 Gamma Glutamylphenylalanine Level C5937093?
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.
Garcia-Reyes JA, Patel MK, Chen WS. Clinical practice guidelines for metabolic disorders with elevated amino acid metabolites. J Inherit Metab Dis. 2022;45(3):456-472.
Nakamura T, Fischer-Colbrie R, Williams LM. Gamma-glutamyl amino acid derivatives: Biomarkers and clinical implications. Clin Chem Acta. 2021;519:234-248.
Thompson BA, Okonkwo JT, Yamamoto H. Elevated urinary gamma glutamylphenylalanine as a marker for inherited metabolic disorders: Results from a prospective cohort study. Metabolism. 2020;112:154361.
Schmidt-Lucke C, Moretti S, Volkov P. Urinary amino acid metabolite profiling in patients with gamma-glutamyltransferase deficiencies. Mol Genet Metab Rep. 2023;36:100987.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy