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[Refsum disease]

I Hochner¹, J F Blickle, J M Brogard

¹Service de médecine interne, HUS, 1, place de l'Hôpital, Strasbourg, France.

La Revue De Medecine Interne

|January 1, 1996

Summary

This summary is machine-generated.

Refsum's disease is a rare genetic disorder caused by phytanic acid buildup. Dietary changes and plasmapheresis can manage neuropathy symptoms.

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Area of Science:

Biochemistry
Genetics
Neurology

Context:

Refsum's disease is an autosomal recessive disorder.
It primarily affects individuals of Scandinavian and Northern European descent.
The condition stems from a deficiency in phytanic acid catabolism.

Purpose:

To describe the pathophysiology, clinical manifestations, diagnosis, and treatment of Refsum's disease.
To highlight the role of phytanic acid accumulation in disease progression.
To evaluate treatment efficacy.

Summary:

Refsum's disease results from impaired phytanic acid breakdown, leading to its accumulation in tissues.
Clinical features include retinitis pigmentosa, peripheral neuropathy, ataxia, and elevated cerebrospinal fluid protein.

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Diagnosis is confirmed by measuring serum phytanic acid levels.

Impact:

Dietary modification and plasmapheresis are the primary treatments.
Treatment is effective for neuropathy but less so for visual and cranial nerve impairments.
Understanding the disease aids in managing patient care and potential therapeutic strategies.