Adult Refsum Disease Cn382123
A rare genetic disorder affecting fat metabolism, causing nerve damage, vision loss, and coordination problems. Treatment involves restricting phytanic acid in the diet and sometimes blood filtering procedures.
Key facts at a glance
- ICD-10
- G31.82
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Cardiac arrhythmia
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Retinitis pigmentosa
(neurologic)Peripheral polyneuropathy
(neurologic)Cerebellar ataxia
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Phytanic Acid Restriction
Strict lifelong dietary avoidance of foods high in phytanic acid including dairy, ruminant meats, and certain fish. Consultation with a metabolic dietitian is essential for safe and nutritionally adequate meal planning.
Metabolic and Clinical Monitoring
Regular measurement of phytanic acid levels, neurological examinations, ophthalmologic assessments, and cardiac evaluation to track disease progression and treatment efficacy.
Additional treatment options
Plasmapheresis for Acute Exacerbations
Extracorporeal removal of phytanic acid during acute neurological worsening or when dietary restriction alone is insufficient to control disease activity.
procedureVitamin A Supplementation
Supplementation with vitamin A and related compounds may help manage retinitis pigmentosa-related visual symptoms in some patients with underlying vitamin A deficiency.
medicationRehabilitative Support for Neuropathy
Physical therapy focusing on balance, strength, and gait training to address peripheral neuropathy symptoms and maintain functional mobility and independence.
physical_therapyWhen 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 Adult Refsum Disease Cn382123?
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.
Huyghe T, Wanders RJA, Waterham HR. Clinical practice guidelines for peroxisomal disorders. Orphanet J Rare Dis. 2022.
Moser AB, Steinberg SJ, Jones RO. Refsum disease and peroxisomal disorders. Mol Genet Metab. 2021.
Sato M, Klarenbeek HJ, Jansen GA. Dietary intervention trial in adult Refsum disease patients. J Inherit Metab Dis. 2020.
Van Vliet K, Gootjes J, Brites P. Neurological manifestations of adult Refsum disease. Curr Neurol Neurosci Rep. 2023.
Medication Comparisons
Compare medications used to treat Adult Refsum Disease Cn382123. 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 27, 2026. · Read our editorial policy