Refsums Disease

Chlorophyll = Green

 

 

 

 

 

 

 Chlorophyll To Phytanic Acid 

 

 

 

 

 

 

Phytanic Acid 

 

Phytanic acid is a branched-chain fatty acid with a methyl group at the beta (3) carbon.

Humans:

• Can synthesize straight-chain fatty acids

• Cannot introduce methyl branches at that position

In other words, human fatty acid synthesis machinery is not designed to build molecules like phytanic acid

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Humans obtain phytanic acid entirely from diet, mainly from:

• Dairy products

• Ruminant animal fats (cow, sheep, goat)

   

   
   
   
   
  Refsums Disease 
   
   
   Sigvald Bernhard Refsum (1907–1991) — Norwegian neurologist 
   

  In 1945, he reported a distinct neurological syndrome characterized by:

  • Retinitis pigmentosa

  • Peripheral neuropathy

  • Cerebellar ataxia

  • Elevated cerebrospinal fluid protein

   
   

   

   

   

  Norwegian Observation  

   

                                    Accumlation Of Excessive Phytanic Acid In Brain 

   

                                                     Neurological Damage 

   

   

   

  

  
   

  Refsums Disease

   

   

  

  

  
   

  
  
                                                                  Snapshot
                      
             Chlorophyll - Excessive Phytanic Acid - Neurological Damage 
   
                                                                Refsums Disease