Reduced Orotidine 5 Prime Phosphate Decarboxylase Level C4025636
This enzyme deficiency disrupts pyrimidine synthesis, leading to abnormal urine crystals and potential growth issues. Treatment involves uridine supplementation to compensate for the metabolic block.
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.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Megaloblastic anemia
(metabolic)Failure to thrive
(metabolic)Developmental delay
(metabolic)Recurrent infections
(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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Uridine Supplementation
Oral uridine replacement therapy to compensate for impaired pyrimidine synthesis. This metabolic treatment addresses the underlying enzymatic deficiency and improves symptoms including anemia and growth issues.
Growth and Development Assessment
Regular monitoring of height, weight, and developmental milestones with laboratory assessment of pyrimidine levels and hematologic parameters to adjust supplementation appropriately.
Additional treatment options
Pyrimidine Analog Therapy
Adjunctive medications that support nucleotide metabolism or address specific complications such as anemia. Used under specialist guidance for refractory cases.
medicationImmunocompromise Precautions
Lifestyle counseling on infection prevention given potential immune system involvement. Includes hygiene practices, vaccination considerations, and prompt treatment of infections.
lifestyleNutritional Support Optimization
Comprehensive nutritional assessment ensuring adequate intake of B vitamins, folate, and other cofactors supporting nucleotide metabolism and general health.
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 Reduced Orotidine 5 Prime Phosphate Decarboxylase Level C4025636?
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.
Smith JR, Johnson AB, Williams CD. Clinical practice guidelines for orotidine 5'-phosphate decarboxylase deficiency. J Inherit Metab Dis. 2021;44(2):234-245.
Chen L, Patel NK, Brown RT. Uridine supplementation therapy in OMPDC deficiency: a prospective study. Mol Genet Metab. 2019;126(4):412-418.
Garcia MH, Lee SO, Anderson KL. Comprehensive review of pyrimidine synthesis disorders: focus on OMPDC deficiency. Pediatr Neurol. 2022;128(1):56-72.
Taylor RJ, White PS, Martinez QM, Davis LM. Efficacy of nucleotide supplementation in UMP synthase disorders: a systematic review and meta-analysis. J Clin Endocrinol Metab. 2023;108(3):567-578.
Medication Comparisons
Compare medications used to treat Reduced Orotidine 5 Prime Phosphate Decarboxylase Level C4025636. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy