Peroxisomes in infantile phytanic acid storage disease: a cytochemical study of skin fibroblasts

M. E. Beard, A. B. Moser, V. Sapirstein, E. Holtzman

Research output: Contribution to journalArticlepeer-review

Abstract

Cultured skin fibroblasts from six patients demonstrating clinical signs and biochemical characteristics of infantile phytanic acid storage disease (IPSD) were examined by electron microscopy, using cytochemical procedures for the demonstration of peroxisomal catalase activity. In four of the six fibroblast cell lines peroxisomes strongly reactive for catalase were present in numbers similar to those found in normal fibroblasts. Liver biopsy tissue from one of these patients showed no typical hepatic peroxisomes, but did show small, marginally reactive bodies. In two other IPSD fibroblast cell lines peroxisomes with appreciable cytochemical reactivity were rare or absent. It seems, therefore, that infantile phytanic acid storage disease is heterogeneous with respect to the presence of cytochemically recognizable peroxisomes, at least in the cases studied here. Furthermore, peroxisomes may be markedly affected in one cell type - liver - and yet not affected in another - skin fibroblasts - within a single individual.

Original languageEnglish (US)
Pages (from-to)321-334
Number of pages14
JournalJournal of Inherited Metabolic Disease
Volume9
Issue number4
DOIs
StatePublished - Dec 1 1986

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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