Refsum’s Syndrome (Heredopathia Atactica Polyneuritiformis)

  • Heiko Traupe


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.


Phytanic Acid Infantile Type Peroxisomal Disease Infantile Refsum Disease Neonatal Adrenoleukodystrophy 
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© 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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