Understanding High Phytanic Acid: Causes, Symptoms, and Management

By SWA

Updated version from Oct. 2024

Phytanic acid is a branched-chain fatty acid derived from the metabolism of phytol, which is found in foods such as dairy products, ruminant fats (e.g., beef, lamb), and certain fish. While small amounts of phytanic acid are typically processed and metabolized in the liver, abnormally high levels can result in toxic accumulation, leading to a variety of symptoms. This condition is often associated with a rare genetic disorder called Refsum disease, though it can also occur due to dietary excess in people with impaired metabolism of this compound.

What Causes High Phytanic Acid?

Elevated phytanic acid levels result from impaired breakdown of this fatty acid in the body. Normally, the enzyme phytanoyl-CoA hydroxylase (encoded by the PHYH gene) initiates the breakdown of phytanic acid through a process called alpha-oxidation. If this enzyme or its associated metabolic pathway is dysfunctional, phytanic acid accumulates in tissues and blood.

Common Causes:

  1. Refsum Disease: An autosomal recessive genetic disorder caused by mutations in:
    • The PHYH gene, which affects phytanic acid metabolism.
    • The PEX7 gene, which impairs peroxisomal function.
  2. Dietary Excess: High consumption of phytanic acid-rich foods.
  3. Other Conditions: Impaired liver function, which can reduce the body's ability to metabolize fatty acids.

Symptoms of High Phytanic Acid

The symptoms of high phytanic acid are often systemic, affecting multiple organs and tissues. These symptoms primarily arise due to the toxic effects of phytanic acid accumulation in nervous tissue, skin, and other areas.

Neurological Symptoms:

  • Peripheral neuropathy: Tingling, numbness, burning sensations, or weakness in the limbs.
  • Ataxia: Poor balance and coordination.
  • Tremors: Uncontrolled shaking or instability.

Vision-Related Symptoms:

  • Retinitis pigmentosa: Progressive vision loss, night blindness, and tunnel vision due to damage to the retina.
  • Blurred vision and photophobia (light sensitivity).

Hearing Issues:

  • Sensorineural hearing loss: Gradual loss of hearing due to damage to inner ear structures.

Skin and Musculoskeletal Symptoms:

  • Ichthyosis: Dry, scaly skin, resembling fish scales.
  • Muscle weakness, pain, or cramps.

Cognitive and Psychiatric Symptoms:

  • Cognitive decline, including memory and concentration problems.
  • Depression or mood swings.

Cardiac Symptoms:

  • Cardiomyopathy: Weakening of the heart muscle, which may lead to heart failure in severe cases.

Diagnosis of High Phytanic Acid

A diagnosis of high phytanic acid typically involves:

  1. Blood Tests: Measuring phytanic acid levels in the plasma.
  2. Genetic Testing: Identifying mutations in the PHYH or PEX7 genes, especially in cases of Refsum disease.
  3. Clinical Examination: Assessing symptoms like neuropathy, retinitis pigmentosa, and ichthyosis.

Managing and Treating High Phytanic Acid

There are no specific supplements that directly reduce high phytanic acid levels, as the body cannot efficiently metabolize phytanic acid in certain conditions, such as Refsum disease or other related metabolic disorders. 

The management of high phytanic acid primarily focuses on reducing its levels in the body and preventing further accumulation.

1. Dietary Restrictions:

  • Avoid foods high in phytanic acid, such as:
    • Dairy products (milk, cheese, butter).
    • Ruminant fats (beef, lamb).
    • Certain fish (e.g., cod, haddock, and tuna).
  • A low-fat diet may also be recommended to reduce overall fatty acid intake.

2. Plasmapheresis:

  • A procedure where blood plasma is removed, filtered to eliminate excess phytanic acid, and then returned to the body.
  • Used in severe cases to rapidly lower phytanic acid levels.

3. Symptomatic Treatment:

  • Neuropathy: Pain management through medications like gabapentin.
  • Vision: Supportive treatments for progressive vision loss.
  • Hearing aids: To address hearing impairment.

4. Monitoring:

  • Regular blood tests to track phytanic acid levels.
  • Long-term follow-up with a metabolic specialist.

Preventing High Phytanic Acid

For individuals with known genetic predispositions (e.g., Refsum disease), maintaining a lifelong low-phytanic acid diet is critical. Early diagnosis and intervention can prevent the development or progression of symptoms.

Resources and References

If you want to learn more about high phytanic acid and its associated conditions, the following resources are excellent starting points:

  1. Refsum Disease Overview – National Organization for Rare Disorders (NORD)
    https://rarediseases.org/rare-diseases/refsum-disease/

  2. Genetics of Phytanic Acid Metabolism – Genetics Home Reference
    https://ghr.nlm.nih.gov/

  3. Plasmapheresis in the Treatment of Metabolic Disorders – American Society for Apheresis
    https://www.apheresis.org/

  4. Dietary Management of Refsum Disease – Orphanet Journal of Rare Diseases
    https://ojrd.biomedcentral.com/

  5. Retinitis Pigmentosa and Metabolic Disorders – American Academy of Ophthalmology
    https://www.aao.org/

Conclusion

High phytanic acid levels can lead to debilitating symptoms affecting the nervous system, vision, skin, and heart. While rare, this condition—commonly linked to Refsum disease—requires early diagnosis and proactive management to prevent irreversible damage. By adhering to a strict low-phytanic acid diet and seeking medical treatment when necessary, individuals with high phytanic acid can improve their quality of life. 

Related symptoms:

Very Long-Chain Fatty Acids (VLCFAs) X-ALD and Spinal Muscular Atrophy (SMA): Exploring the Connection

 

© 2000-2025 Sieglinde W. Alexander. All writings by Sieglinde W. Alexander have a fife year copy right. Library of Congress Card Number: LCN 00-192742 ISBN: 0-9703195-0-9

 

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