Refsum Disease

Overview

An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Refsum Disease

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.140.163.100.813|C10.500.300.780|C10.574.500.495.780|C10.668.829.800.300.780|C16.131.666.300.780|C16.320.400.375.780|C16.320.565.189.813|C16.320.565.663.760|C18.452.132.100.813|C18.452.648.189.813|C18.452.648.663.760

Preparing for an appointment about Refsum Disease

If you are speaking with a healthcare professional about Refsum Disease, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

Finding care related to Refsum Disease

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