Original Investigations

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

  • R. J. A. WandersAffiliated withDepartment of Pediatrics, University Hospital Amsterdam
  • , R. B. H. SchutgensAffiliated withDepartment of Pediatrics, University Hospital Amsterdam
  • , G. SchrakampAffiliated withLaboratory of Biochemistry, University of Utrecht
  • , H. van den BoschAffiliated withLaboratory of Biochemistry, University of Utrecht
  • , J. M. TagerAffiliated withLaboratory of Biochemistry, University of Amsterdam
  • , A. W. SchramAffiliated withLaboratory of Biochemistry, University of Amsterdam
  • , T. HashimotoAffiliated withDepartment of Biochemistry, Shinshu University School of Medicine
  • , B. T. Poll-ThéAffiliated withClinique Génétique, INSERM U12, Hôpital des Enfants-Malades
  • , J. M. SaudubrauAffiliated withClinique Génétique, INSERM U12, Hôpital des Enfants-Malades

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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 disease Cerebro-hepato-renal (Zellweger) syndrome Peroxisomes Inborn error of metabolism Enzyme deficiency