Refsum Disease, Infantile

Overview

An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of 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, Infantile

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.140.163.100.844|C16.320.565.189.844|C16.320.565.663.865|C18.452.132.100.844|C18.452.648.189.844|C18.452.648.663.865

Preparing for an appointment about Refsum Disease, Infantile

If you are speaking with a healthcare professional about Refsum Disease, Infantile, 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.

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