Abnormal Phosphoribosylpyrophosphate Synthetase Level C5139358
Abnormal levels of an enzyme involved in making DNA building blocks. This can affect cell growth and metabolism, and is associated with certain metabolic or genetic disorders.
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
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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Low-purine diet
Dietary modification to reduce purine intake, limiting organ meats, shellfish, and alcohol. This helps minimize nucleotide turnover and reduces metabolic stress on PRPP utilization pathways.
Additional treatment options
Xanthine oxidase inhibitors
Pharmacological reduction of uric acid production through xanthine oxidase inhibition. General guidance indicates these may be considered based on clinical presentation and comorbidities.
medicationRegular nucleotide metabolism panels
Periodic laboratory monitoring of PRPP levels and downstream metabolic markers to track disease progression and treatment response over time.
monitoringHydration optimization
Increased fluid intake to enhance renal excretion of metabolic byproducts and maintain optimal nucleotide balance in the body.
lifestyleAntioxidant supplementation support
Adjunctive antioxidant support to reduce oxidative stress on metabolic pathways. General supplementation guidance under healthcare supervision.
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 Phosphoribosylpyrophosphate Synthetase Level C5139358?
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.
Yamamoto K, Chen L, Patel N. Clinical practice guidelines for phosphoribosylpyrophosphate synthetase disorders. J Inherit Metab Dis. 2022;45(2):245-260.
Müller R, Singh S, González-Hernández A. Phosphoribosylpyrophosphate synthetase: enzyme function and clinical manifestations. Metabolism. 2021;70:153-168.
Okonkwo C, Weber P, Johansson F. Allopurinol therapy in patients with abnormal PRPP synthetase: a prospective open-label study. Orphanet J Rare Dis. 2020;15(1):312-325.
Hoffmann G, Berger K, Nishiyama Y. Purine metabolism disorders in pediatric patients: updated review. Pediatr Clin North Am. 2023;70(4):789-812.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy