Hprt1 Disorders Cn381132
HPRT1 disorders are metabolic conditions affecting purine processing, including Lesch-Nyhan syndrome. They cause neurological problems, movement abnormalities, and self-injurious behavior. Treatment focuses on symptom management and reducing uric acid.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Self-injurious behavior
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hyperuricemia
(metabolic)Gouty arthritis
(musculoskeletal)Nephrolithiasis
(renal)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Xanthine oxidase inhibition therapy
Allopurinol reduces uric acid production by inhibiting xanthine oxidase, preventing gout, kidney stone formation, and nephropathy. Requires gradual dose titration to prevent tumor lysis syndrome-like complications.
Purine-restricted diet
Systematic reduction of dietary purine sources including organ meats, certain seafood, and high-fructose foods to complement pharmacological uric acid lowering and reduce flare frequency.
Additional treatment options
Behavioral modification program
Intensive behavioral interventions including environmental modifications, awareness training, and positive behavior support to reduce self-injurious behaviors characteristic of severe HPRT1 disorders.
psychologicalDystonia and movement disorder management
Physical therapy focusing on dystonia, spasticity, and movement disorder management through positioning, stretching, and functional movement training. May include assistive devices for mobility support.
physical_therapyKidney stone prevention and management
Aggressive hydration protocols combined with urinary alkalinization to prevent uric acid stone formation. Regular renal ultrasound screening for early stone detection.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Hprt1 Disorders Cn381132?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Hprt1 Disorders Cn381132. 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