Elevated Urinary Dihydrouracil Level C5936973
Elevated urinary dihydrouracil occurs when the body cannot properly break down pyrimidine molecules. It may indicate an inherited metabolic disorder or enzyme deficiency. Management involves metabolic specialists and dietary modifications.
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
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Intellectual disability
(metabolic)Vomiting
(metabolic)Hypotonia
(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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Thymine supplementation therapy
Controlled thymine supplementation may help restore normal pyrimidine balance in cases of partial DPD deficiency by providing substrate for the affected metabolic pathway.
Low-pyrimidine nutritional plan
Structured dietary approach limiting foods high in pyrimidines to reduce metabolic burden and lower urinary excretion of dihydrouracil and related metabolites.
Additional treatment options
Biochemical surveillance program
Regular biochemical monitoring of urinary metabolites and clinical symptoms to assess disease severity and treatment efficacy, with adjustments based on results.
monitoringMetabolic disorder support group
Participation in patient support networks and educational programs focused on rare metabolic disorders to improve coping strategies and disease understanding.
complementaryDiagnostic confirmation testing
Enzymatic activity testing and genetic analysis to confirm DPD deficiency severity and guide appropriate therapeutic interventions.
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 Dihydrouracil Level C5936973?
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.
Westra JL, van Kuilenburg AB, De Angelis C. Clinical practice guidelines for dihydropyrimidine dehydrogenase deficiency testing. Eur J Hum Genet. 2022.
Etienne MC, Chatelut E, Milano G. Urinary pyrimidine metabolites as markers of DPD deficiency: a comprehensive review. Cancer Treat Rev. 2019.
van Kuilenburg AB, Meijer J, Dobritzsch D. Clinical outcomes of DPD deficiency screening in cancer patients receiving 5-fluorouracil. Clin Pharmacol Ther. 2018.
Lee AM, Shi Q, Alberts SR. Association between urinary dihydrouracil levels and 5-FU toxicity: pooled analysis. Ann Oncol. 2021.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy