European Journal of Pediatrics

, Volume 145, Issue 3, pp 172–175

Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal β-oxidation enzyme proteins

Authors

  • R. J. A. Wanders
    • Department of PediatricsUniversity Hospital Amsterdam
  • R. B. H. Schutgens
    • Department of PediatricsUniversity Hospital Amsterdam
  • G. Schrakamp
    • Laboratory of BiochemistryUniversity of Utrecht
  • H. van den Bosch
    • Laboratory of BiochemistryUniversity of Utrecht
  • J. M. Tager
    • Laboratory of BiochemistryUniversity of Amsterdam
  • A. W. Schram
    • Laboratory of BiochemistryUniversity of Amsterdam
  • T. Hashimoto
    • Department of BiochemistryShinshu University School of Medicine
  • B. T. Poll-Thé
    • Clinique Génétique, INSERM U12Hôpital des Enfants-Malades
  • J. M. Saudubrau
    • Clinique Génétique, INSERM U12Hôpital des Enfants-Malades
Original Investigations

DOI: 10.1007/BF00446057

Cite this article as:
Wanders, R.J.A., Schutgens, R.B.H., Schrakamp, G. et al. Eur J Pediatr (1986) 145: 172. doi:10.1007/BF00446057

Abstract

In recent years a number of biochemical abnormalities have been described in patients with the infantile form of Refsum disease, including the accumulation of very long chain fatty acids, trihydroxycoprostanoic acid and pipecolic acid. In this paper we show that catalase-containing particles (peroxisomes), alkyl dihydroxyacetone phosphate synthase and acyl-CoA oxidase protein are deficient in patients with infantile Refsum disease. These findings suggest that in the infantile form of Refsum disease, as in the cerebro-hepato-renal (Zellweger) syndrome the multiplicity of biochemical abnormalities is due to a deficiency of peroxisomes and hence to a generalized loss of peroxisomal functions. As a consequence the infantile form of Refsum disease can be diagnozed biochemically by methods already available for the prenatal and postnatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome.

Key words

Infantile Refsum diseaseCerebro-hepato-renal (Zellweger) syndromePeroxisomesInborn error of metabolismEnzyme deficiency

Copyright information

© Springer-Verlag 1986