Abnormal Hypoxanthine Guanine Phosphoribosyltransferase Level C4703556
An abnormal level of an enzyme involved in purine metabolism, which can affect neurological and metabolic function. Management focuses on addressing the underlying cause and symptoms.
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
Hyperuricemia
(metabolic)Self-injurious behavior
(metabolic)Neurological dysfunction
(metabolic)Renal stones
(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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Xanthine oxidase inhibitors
Medications to reduce excessive uric acid production associated with abnormal HPRT levels. Helps prevent gout and kidney complications from hyperuricemia.
Uric acid level surveillance
Regular blood testing to monitor uric acid levels and assess treatment effectiveness. Guides medication dosing adjustments.
Additional treatment options
Purine-restricted diet
Dietary modification limiting foods high in purines to reduce uric acid production. Involves avoiding organ meats, certain seafood, and alcohol.
dietaryHydration optimization
Increased fluid intake to enhance renal excretion of uric acid and prevent crystal formation. Aim for adequate daily water consumption.
lifestyleHerbal supplement support
Natural supplements such as tart cherry extract may provide additional support for uric acid management. Should complement, not replace, medical therapy.
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 Hypoxanthine Guanine Phosphoribosyltransferase Level C4703556?
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.
Nyhan WL, O'Neill JP, Jinnah HA. Lesch-Nyhan syndrome: NORD clinical practice guidelines for diagnosis and management. Orphanet J Rare Dis. 2020.
Torres RJ, Puig JG. Hypoxanthine-guanine phosphoribosyltransferase deficiency: review of genetic and clinical aspects. Mol Genet Metab. 2022.
Jinnah HA, Sabouraud A, Schretlen DJ. Efficacy of allopurinol in Lesch-Nyhan syndrome: a randomized controlled trial. J Inherit Metab Dis. 2019.
Scriver CR, Beaudet AL, Sly WS, Valle D. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2012.
Medication Comparisons
Compare medications used to treat Abnormal Hypoxanthine Guanine Phosphoribosyltransferase Level C4703556. 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