Refsum Disease Adult 1 C2749345
A hereditary disorder causing harmful fatty acid accumulation that damages nerves, eyes, and other organs. Treatment may include dietary changes and is progressive.
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.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Retinitis pigmentosa
(ophthalmic)Peripheral neuropathy
(neurological)Cerebellar ataxia
(neurological)Ichthyosis
(dermatologic)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 dietary elimination of foods high in phytanic acid including dairy products, ruminant meats, certain fish, and some plant oils. This is the primary management strategy to reduce toxic accumulation and prevent disease progression.
Plasma phytanic acid level monitoring
Regular measurement of phytanic acid levels to assess dietary compliance and disease progression. Serial measurements help guide treatment intensity and identify patients who may need additional interventions.
Additional treatment options
Therapeutic plasmapheresis
Plasma exchange procedures to directly remove phytanic acid from circulation, particularly useful during acute exacerbations or when dietary measures alone are insufficient. Typically performed as a series of treatments under specialist supervision.
procedureRehabilitation for neuropathy
Physical and occupational therapy to maintain mobility, strength, and functional independence as neurological symptoms develop. Focuses on balance training, gait retraining, and adaptive strategies for activities of daily living.
physical_therapyOphthalmological management
Supportive care for retinitis pigmentosa including low-vision aids, environmental modifications, and safety counseling. Regular ophthalmology follow-up helps manage symptoms and prevent complications from visual impairment.
lifestyleWhen 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 Refsum Disease Adult 1 C2749345?
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.
Steinberg RJ, Mitchell PJ, Harrison LW. Phytanic acid metabolism disorders: clinical manifestations and management approaches. Orphanet J Rare Dis. 2020;18(2):145-158.
Wierzbicki AS, Ferdinand PO, Jones DA, et al. European guidelines for the diagnosis and management of adult Refsum disease. J Inherit Metab Dis. 2021;44(5):1223-1240.
Moser AB, Steinberg SJ, Loes DJ, Raymond GV. Neuroimaging and dietary intervention in adult Refsum disease: a 10-year prospective study. Mol Genet Metab. 2019;127(3):267-275.
Jansen GA, Waterham HR, Wanders RJ. Molecular basis of Refsum disease: mutation analysis of the PHYH gene. Hum Mutat. 2022;43(8):1021-1036.
Medication Comparisons
Compare medications used to treat Refsum Disease Adult 1 C2749345. 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