Pseudo-Zellweger syndrome: Deficiencies in several peroxisomal oxidative activities

Sidney Goldfischer, Janna Collins, Isabelle Rapin, Paul Neumann, Walter Neglia, Alfred J. Spiro, Tohru Ishii, Frank Roels, Joseph Vamecq, François Van Hoof

Research output: Contribution to journalArticle

134 Scopus citations

Abstract

We describe an infant girl with a clinical, chemical, and pathologic syndrome remarkably similar to Zellweger cerebrohepatorenal syndrome but whose liver parenchymal cells contained abundant peroxisomes. Peroxisomal l-alpha hydroxy acid oxidase, catalase, and the plasmalogen synthesizing enzyme dihydroxy acetone phosphate-acyl transferase activities were normal; other peroxisomal enzymatic activities, including fatty acyl-CoA oxidase and d-amino acid oxidase, were reduced by 80% to 85%. Oxidation of bile acids and pipecolic acid was also deficient. Autopsy revealed the presence of neuronal heterotopia, renal cortical cysts, adrenal atrophy, and accumulation of very long chain fatty acids. The clinical and pathologic features of this case of "pseudo-Zellweger syndrome" reflect a deficiency in multiple peroxisomal activities rather than a defect in peroxisomal biogenesis. The deficient enzymatic activities require flavin adenine dinucleotide, and the underlying defect may be in the utilization of this cofactor.

Original languageEnglish (US)
Pages (from-to)25-32
Number of pages8
JournalThe Journal of Pediatrics
Volume108
Issue number1
DOIs
StatePublished - Jan 1986

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Goldfischer, S., Collins, J., Rapin, I., Neumann, P., Neglia, W., Spiro, A. J., Ishii, T., Roels, F., Vamecq, J., & Hoof, F. V. (1986). Pseudo-Zellweger syndrome: Deficiencies in several peroxisomal oxidative activities. The Journal of Pediatrics, 108(1), 25-32. https://doi.org/10.1016/S0022-3476(86)80764-8