Neonatal adrenoleukodystrophy. Impaired plasmalogen biosynthesis and peroxisomal β-oxidation due to a deficiency of catalase-containing particles (peroxisomes) in cultured skin fibroblasts

R. J.A. Wanders, R. B.H. Schutgens, G. Schrakamp, J. M. Tager, H. Van den Bosch, A. B. Moser, H. W. Moser

Research output: Contribution to journalArticlepeer-review

Abstract

Neonatal adrenoleukodystrophy belongs to the newly recognized group of inherited diseases, the peroxisomal disorders. Based on the reported similarities between neonatal adrenoleukodystrophy and the cerebro-hepato-renal (Zellweger) syndrome, we have studied peroxisomal functions in cultured skin fibroblasts from 5 neonatal adrenoleukodystrophy patients. The results indicate that multiple peroxisomal enzyme activities are deficient in fibroblasts from neonatal adrenoleukodystrophy patients. Digitonin titration experiments revealed that peroxisomes are strongly deficient in these fibroblasts as found earlier in fibroblasts from Zellweger patients. These findings not only explain the generalized loss of peroxisomal functions in neonatal adrenoleukodystrophy, but also provide an explanation for the observed resemblance in clinical and biochemical abnormalities between neonatal adrenoleukodystrophy and Zellweger syndrome. The implications for the pre- and postnatal detection of this disease will be discussed.

Original languageEnglish (US)
Pages (from-to)331-340
Number of pages10
JournalJournal of the Neurological Sciences
Volume77
Issue number2-3
DOIs
StatePublished - Feb 1987

Keywords

  • Adrenoleukodystrophy
  • Fatty acid β-oxidation
  • Peroxisomal disorder
  • Peroxisomes
  • Plasmalogen biosynthesis
  • Zellweger syndrome

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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