Refsum’s Disease

  • Jacob Valk
  • Marjo S. van der Knaap


Refsum’s disease (RD), also called heredopathia atactica polyneuritiformis, is a rare disorder with an autosomal recessive mode of inheritance, characterized by accumulation of phytanic acid. The age at onset is known to vary from early childhood to the fifth decade. The onset is insidious and may be difficult to determine precisely. Symptoms sometimes appear to be precipitated by infections. Dramatic exacerbations and remissions of symptoms may occur spontaneously, without obvious antecedent cause.


Phytanic Acid Dentate Nucleus Zellweger Syndrome Phytanic Acid Content Autosomal Recessive Mode 
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Classic Refsum’s Disease

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Infantile Refsum’s Disease

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  10. Wanders RJ, Schutgens RB, Schrakamp G, Bosch van den H, et al. (1986) Infantile Refsum’s disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins. Eur J Pediatr 145: 172–175PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1989

Authors and Affiliations

  • Jacob Valk
    • 1
  • Marjo S. van der Knaap
    • 2
  1. 1.Department of Diagnostic Radiology and NeuroradiologyFree University HospitalAmsterdamThe Netherlands
  2. 2.Department of Child NeurologyAcademic HospitalUtrechtThe Netherlands

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