Phytanic acid storage disease: hearing maintained after 15 years of dietary treatment

Neurology. 1983 Feb;33(2):237-40. doi: 10.1212/wnl.33.2.237.

Abstract

Heredopathia atactica polyneuritiformis is a biochemically defined disease with a specific dietary treatment. It is an autosomal inborn error of metabolism. The phytanic acid is of exogenous origin and stems mainly from preformed phytanic acid in foods. In two Norwegian patients, serum phytanic acid has been brought down to normal levels and one of them has been followed for 15 years. During this period of dietary treatment there was no worsening of hearing.

MeSH terms

  • Eicosanoic Acids / administration & dosage*
  • Hearing Loss / complications
  • Hearing Loss / diet therapy*
  • Humans
  • Phytanic Acid / administration & dosage*
  • Refsum Disease / complications
  • Refsum Disease / diet therapy*

Substances

  • Eicosanoic Acids
  • Phytanic Acid