Refsum’s Syndrome (Heredopathia Atactica Polyneuritiformis)

  • Heiko Traupe

Abstract

Refsum’s syndrome is an autosomal recessive disorder that was first described under the name heredopathia atactica polyneuritiformis (HAP) by the Norwegian neurologist Sigvald Refsum in the years 1944–1946 [12]. Phytanic acid accumulation was identified in Refsum’s disease by Klenk and Kahlke [8] more than 20 years ago and has since then been used as a diagnostic criterion. Prior to their pubhcation, phytanic acid had been identified neither in plant nor in animal tissue. Recently, an infantile type was separated from the classical adult-onset type. This infantile type is characterized by a deficiency of catalase-containing particles (peroxisomes) [10, 14]. Infantile Refsum’s syndrome does not seem to be associated with skin symptoms [10] and therefore will not be discussed in detail. Interestingly, it is a link to other peroxisomal diseases such as the cerebro-hepato-renal (Zellweger) syndrome, the rhizomelic type of chondrodysplasia puntata, and neonatal adrenoleukodystrophy. In all these conditions storage of phytanic acid can be detected [10, 14] and they share the defective alpha-oxidation capacity of phytanic acid.

Keywords

Cholesterol Cataract Dermatol Blindness Phytol 

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References

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Copyright information

© Springer-Verlag Berlin Heidelberg 1989

Authors and Affiliations

  • Heiko Traupe
    • 1
  1. 1.Department of Human GeneticsUniversity of NijmegenHB NijmegenThe Netherlands

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