In 1963 it was shown that sufferers from Refsum's disease accumulate phytanic acid in serum and body tissues and subsequent work demonstrated that these people lacked an enzyme essential to the metabolism and elimination of this branched chain fatty acid.

It has since been shown that the phytanic acid which accumulates is taken in in the diet and if this can be avoided, the condition of patients can be substantially improved.

Originally little was known about the amount of phytanic acid in foods: it was known to occur in fats from cows, sheep and fish and possibly in others, so an overall low fat diet was prescribed.  In addition little was known about the occurrence of free phytol in foods, so all green vegetables and some fruits were also forbidden as potential sources of phytol because this can be changed into phytanic acid in the body.

The diet was unpalatable and very restricted and supplementary vitamins had to be taken.

It has now been shown that the phytol in green foods is bound to chlorophyll and is not absorbed and that all fruits and vegetables can be included in the diet.

A systematic analysis of foods from all food groups has identified the significant sources of phytanic acid as being from animal sources and allowed the prescription of a less restrictive diet.
 

PRINCIPLES

1.   All foods known to contain phytanic acid and free phytol should be avoided. 
In the U.K. this means all foods from fish and animals which feed on grass – i.e. – cows, sheep 
and goats.

2.   One should eat sufficiently well to PREVENT LOSS OF WEIGHT.
      When the weight loss falls body fat stores are used for energy 
      and the stored phytanic acid is released into the blood causing problems.
      This may even happen over a short time scale so a REGULAR
      EATING PATTERN of three meals a day plus snacks if necessary
      is better than long periods without food, followed by a large meal.

3.   Refsum's patients should aim to choose their diet from a VARIETY
      of foods so as to obtain all the nutrients needed for overall good
      health.  In this they are no different from the rest of the population.

Based on the analysis of a sample of foods from different food groups, the diet table divides foods into three groups.
 

GROUP ONE - Free Foods

Foods where no phytanic acid was found.  These foods can be taken freely.
 

GROUP TWO - Medium Risk Foods

Foods found to contain up to about 8 mg. phytanic acid in a normal serving. 
Although Refsum's patients can break down some phytanic acid (10 - 30 mg.  per day) they should aim to take in as little as possible so only ONE food from this group should be eaten each day and preferably not on a regular basis.

During illness they should be avoided completely.
 

GROUP THREE - High Risk Foods

Foods found to contain high levels of phytanic acid - above 10 mg and up to 700mg/100g (in fish oils).  Also this group contains those processed foods containing ingredients known to be high in phytanic acid - cream, butter and "animal fats" which are often in fish oils.

Foods in this Group three should be avoided completely.
 

PHYTOL CONTENT OF FOODS

Free phytol can be changed into phytanic acid in the body so patients with Refsum's disease should obviously avoid taking it in the diet.

Little information on the free phytol in food has been available but recent analyses of a range of foods have found none in meat and small amounts in some foods of plant origin.  Provided no one food is eaten in large quantities there are no grounds at present for avoiding any food on the basis of its free phytol content alone.

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