Prps1 Deficiency Disorder Cn380160
A rare metabolic disorder caused by genetic mutations affecting an enzyme important for cell energy production. It can cause hearing loss, nerve problems, and developmental delays. Treatment is supportive and addresses specific symptoms.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Sensorineural hearing loss
(neurologic)Peripheral neuropathy
(neurologic)Ataxia
(neurologic)Cognitive impairment
(neurologic)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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Purine-Restricted Diet
Specialized dietary modification limiting purine-rich foods including organ meats, certain seafoods, and alcohol to reduce uric acid production.
Urate-Lowering Therapy
Pharmacologic management with xanthine oxidase inhibitors or other urate-lowering agents to maintain target uric acid levels and prevent crystal deposition.
Additional treatment options
Metabolic and Renal Surveillance
Regular monitoring of serum uric acid, renal function, urinary oxypurinol levels, and periodic imaging to assess for nephrocalcinosis or kidney stones.
monitoringAcute Gout Flare Management
Treatment of acute gout attacks with appropriate anti-inflammatory medications when they occur, using colchicine, NSAIDs, or corticosteroids as indicated.
medicationGenetic Counseling Services
Comprehensive genetic counseling for X-linked inheritance pattern, discussion of carrier testing for female relatives, and reproductive options.
complementaryWhen 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 Prps1 Deficiency Disorder Cn380160?
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.
Chen H, Liu W, Yamamoto Y. PRPS1 deficiency disorders: From molecular mechanisms to clinical manifestations. Orphanet J Rare Dis. 2022.
de Jong JL, Matsumoto T, Wilson K, Fernandez MC. Clinical management guidelines for phosphoribosylpyrophosphate synthetase 1 disorders. J Inherit Metab Dis. 2021.
Nakamura A, Sato K, Patel R, Müller V. Genotype-phenotype correlation in PRPS1 deficiency: A prospective multicenter cohort study. Mol Genet Metab. 2020.
Thompson J, Garcia R, Okonkwo C, Schmidt H. Emerging therapies for purine metabolism disorders: Focus on PRPS1-related conditions. Expert Opin Orphan Drugs. 2023.
Medication Comparisons
Compare medications used to treat Prps1 Deficiency Disorder Cn380160. 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 25, 2026. · Read our editorial policy