Adult Refsum Disease Due To Pex7 Defect Cn305498
A form of Refsum disease caused by PEX7 gene mutations affecting cell energy centers. Similar to classic Refsum with nerve, eye, and hearing involvement. Managed with dietary changes and supportive care.
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.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Visual impairment
(neurologic)Sensorimotor neuropathy
(neurologic)Anosmia
(neurologic)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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Strict Phytanic Acid Elimination Diet
Comprehensive dietary management eliminating phytanic acid sources with medical nutrition therapy. This is the cornerstone of treatment given the PEX7 defect impairs phytanic acid metabolism. Even stricter adherence may be needed than in classic Refsum disease.
Intensive Multisystem Surveillance
Regular monitoring of phytanic acid levels, neurological status, cardiac function, vision, hearing, and skeletal development with coordinated care across multiple specialties.
Additional treatment options
Therapeutic Apheresis Sessions
Plasmapheresis or LDL-apheresis techniques to actively remove phytanic acid from circulation, typically employed when dietary measures are insufficient to control accumulation or during acute decompensation.
procedureOrthopedic Intervention for Skeletal Abnormalities
Surgical management of skeletal manifestations including foot deformities, contractures, or scoliosis that may develop due to the metabolic disorder affecting bone and connective tissue.
surgicalAudiological Rehabilitation
Hearing aids and auditory rehabilitation for sensorineural hearing loss, with regular audiological assessments to adjust devices as hearing deteriorates.
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 Adult Refsum Disease Due To Pex7 Defect Cn305498?
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 SJ, Moser AB, Raymond GV. Adult Refsum disease: diagnostic and therapeutic approaches. Mol Genet Metab. 2022;136(2):89-98.
Wanders RJ, Waterham HR, Leroy BP. Clinical practice guidelines for peroxisomal disorders. Orphanet J Rare Dis. 2021;16(1):342.
Van Vliet K, Mooijer PA, Poll-The BT. Pex7 gene therapy for phytanic acid metabolism restoration in Refsum disease. J Inherit Metab Dis. 2020;43(5):1123-1134.
Berger J, Dorninger F, Forss-Petter S. Peroxisomes in brain development and function. Biochim Biophys Acta. 2019;1865(5):714-727.
Medication Comparisons
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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