Phytanic acid oxidase deficiency

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Phytanic acid oxidase deficiency (Refsum's disease) is characterised by:

  1. Retinitis pigmentosa
  2. Polyneuropathy
  3. Cerebellar disease

It is caused by either defects in:

Treatment

Low phytanic acid diet without animal fat and butter[1]

The eponym is from Sigvald Refsum (1907-1991)

References

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