Refsum Disease


Refsum disease is a rare genetic disorder that impacts the metabolism of phytanic acid, a type of fat found in certain foods. This metabolic defect leads to the accumulation of phytanic acid in the body, which can cause a variety of symptoms, primarily affecting the nervous system, eyes, skin, and bones.

What is Refsum Disease?

Refsum disease, also known as heredopathia atactica polyneuritiformis, is a peroxisomal disorder. It was first described by the Norwegian physician Sigvald Refsum in 1945. The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two defective copies of the gene, one from each parent, to manifest the disease.


Refsum disease is caused by mutations in the PHYH gene or the PEX7 gene. These genes are essential for the normal breakdown of phytanic acid. When these genes are mutated, the body cannot properly metabolize phytanic acid, leading to its accumulation in tissues.

  • PHYH Gene: This gene provides instructions for making an enzyme called phytanoyl-CoA hydroxylase, which is crucial for breaking down phytanic acid.
  • PEX7 Gene: This gene is involved in the import of proteins into peroxisomes, cellular structures that play a key role in lipid metabolism.

Signs and Symptoms

The symptoms of Refsum disease can vary widely among individuals, but they generally begin in late childhood or early adulthood. Key symptoms include:

  • Retinitis Pigmentosa: Progressive vision loss due to degeneration of the retina.
retinitis pigmentosa in refsum disease
  • Peripheral Neuropathy: Nerve damage that causes muscle weakness and sensory problems.
  • Ataxia: Coordination and balance difficulties.
  • Hearing Loss: Progressive loss of hearing.
  • Ichthyosis: Dry, scaly skin.
  • Bone Anomalies: Shortening of the fourth toe and other bone deformities.
  • Cardiac Arrhythmias: Irregular heartbeats that can be life-threatening.


Diagnosing Refsum disease involves a combination of clinical evaluation, family history, and specific tests:

  • Blood Tests: Elevated levels of phytanic acid in the blood can confirm the diagnosis.
  • Genetic Testing: Identifying mutations in the PHYH or PEX7 genes can provide a definitive diagnosis.
  • Electroretinography: To assess retinal function.
  • Nerve Conduction Studies: To evaluate peripheral neuropathy.


The primary goal of treatment for Refsum disease is to reduce the levels of phytanic acid in the body. This can be achieved through:

  • Dietary Restrictions: Avoiding foods high in phytanic acid, such as dairy products, beef, lamb, and certain fish.
  • Plasmapheresis: A procedure that filters the blood to remove excess phytanic acid.
  • Medications: To manage symptoms such as arrhythmias and skin problems.

Lifestyle and Management

Living with Refsum disease requires ongoing management to prevent complications and maintain quality of life:

  • Regular Monitoring: Routine blood tests to monitor phytanic acid levels.
  • Nutritional Counseling: To ensure a balanced diet while avoiding phytanic acid.
  • Physical Therapy: To manage neuropathy and maintain mobility.
  • Supportive Therapies: Vision and hearing aids, as well as mobility aids if needed.


If not managed properly, Refsum disease can lead to serious complications:

  • Cardiac Issues: Severe arrhythmias can be life-threatening.
  • Severe Vision Loss: Progressive retinitis pigmentosa can lead to blindness.
  • Mobility Issues: Ataxia and peripheral neuropathy can result in significant disability.


Refsum disease is a complex disorder requiring a multidisciplinary approach for effective management. Early diagnosis and appropriate treatment can significantly improve the quality of life for affected individuals. Ongoing research and advances in genetic therapies hold promise for future improvements in the management of this rare condition.

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