What is Refsum Disease?
Adult Refsum disease (ARD) is a rare, inherited metabolic condition caused by a genetic mutation that impairs the body's ability to break down phytanic acid, a type of fat. As a result, phytanic acid builds up to toxic levels in tissues and plasma, leading to neurological problems, vision and hearing loss, and skin abnormalities. Phytanic acid is not produced by the human body and is instead obtained exclusively from dietary sources, making dietary management a cornerstone of treatment.
The Importance of a Low-Phytanic Acid Diet
The primary treatment for ARD is a strict, lifelong diet low in phytanic acid. The goal is to reduce daily intake of phytanic acid to less than 10 mg. This dietary restriction is critical for slowing the progression of symptoms and can lead to the resolution of certain issues like neuropathy and ichthyosis. However, lifelong adherence is mandatory, and a dietitian's guidance is essential to ensure adequate nutrition and avoid deficiencies.
Core Principles of the Refsum Diet
Navigating a low-phytanic acid diet requires adherence to several key principles designed to manage phytanic acid levels effectively.
- Restrict Phytanic Acid Intake: Eliminate or severely limit foods rich in phytanic acid, primarily from ruminant animals (beef, lamb, goat), dairy products (full-fat milk, butter, cheese), and certain fish.
- Ensure High Carbohydrate Consumption: Maintaining a high carbohydrate intake is crucial to prevent the body from breaking down its own fat stores. During fat breakdown (lipolysis), stored phytanic acid is released into the bloodstream, increasing toxic levels. Experts often recommend a daily intake of over 200g of carbohydrates, distributed across regular meals and snacks.
- Avoid Rapid Weight Loss and Fasting: These actions can trigger a dangerous release of phytanic acid from the body's fat reserves. Any weight management must be done slowly and under close medical supervision.
- Manage Sickness and Medical Procedures: During illness or before surgery, when fasting is required, a supervised glucose regimen is necessary to prevent fat breakdown and phytanic acid release.
- Monitor Nutritional Status: Since the diet is highly restrictive, regular monitoring of nutritional bloods is vital to check for deficiencies in vitamins (especially fat-soluble ones) and minerals.
- Focus on Safe Protein Sources: Select low-phytanic acid protein sources like chicken, eggs, and lean pork. Plant-based proteins such as lentils, beans, and tofu are also excellent options.
Comparison of Food Sources on the Refsum Diet
To illustrate the dietary choices required for managing ARD, the following table compares common food groups based on their phytanic acid content.
| Food Category | Foods High in Phytanic Acid (To Be Avoided) | Foods Low in Phytanic Acid (Preferred Choices) |
|---|---|---|
| Meat | Beef, Lamb, Goat, Fatty Pork | Lean Chicken, Turkey, Eggs, Rabbit |
| Dairy | Full-fat Milk, Cream, Butter, Cheese | Skimmed Milk, Fat-free Yogurt, Plant-based alternatives (oat, soya milk) |
| Fish | Oily Fish (Cod, Tuna, Salmon, Sardines) | Prawns, Lobster, Scallops |
| Plant-based | Flaxseed Oil, some Nuts (peanuts, almonds) | Leafy Greens, Most Fruits, Grains, Vegetables (Note: older advice to avoid all chlorophyll is outdated) |
Practical Implementation of the Diet
Adopting the Refsum diet requires careful meal planning and label reading. Given the rarity of the disease, finding accurate food data can be challenging, though organizations like the Global DARE Foundation are working to expand testing. A registered dietitian specializing in metabolic disorders is the best resource for creating a safe and effective meal plan.
Potential Improvements and Complications
Strict adherence to the diet can lead to significant clinical improvement in many patients, including resolution of ichthyosis (scaly skin) and neuropathy. However, some symptoms, particularly vision and hearing loss, may only stabilize rather than improve. The diet does not cure the genetic defect, and its effects can be complicated by the long-term storage of phytanic acid in body fat, which can be released over time. Acute events like illness, fasting, or rapid weight loss can trigger a sudden increase in phytanic acid levels, requiring immediate medical intervention, sometimes including plasmapheresis to filter the blood.
Conclusion
For adults with Refsum disease, a low-phytanic acid diet is not merely a lifestyle choice but a critical medical treatment. By severely restricting the intake of high-phytanic-acid foods, ensuring a consistent high carbohydrate intake, and avoiding rapid weight loss, individuals can effectively manage their symptoms and slow the progression of the disease. The diet is a lifelong commitment that requires careful planning and regular medical oversight. Organizations like the Global DARE Foundation provide invaluable resources and support for patients seeking to navigate the complexities of this rare condition. The importance of partnering with a healthcare team, including a metabolic specialist and a dietitian, cannot be overstated in achieving the best possible outcomes.
Visit the Global DARE Foundation for comprehensive dietary resources.
What is the Refsum diet for adults?
In summary, the Refsum diet for adults is a lifelong, strict dietary regimen focused on restricting the intake of phytanic acid, a type of fat found primarily in ruminant meats, dairy, and certain fish. The diet aims to reduce the toxic accumulation of phytanic acid caused by a rare metabolic disorder. It emphasizes a high carbohydrate intake to prevent the breakdown of body fat, which would release stored phytanic acid. The diet is a cornerstone of treatment and requires close medical and nutritional supervision.
