Review: The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects

R. I. Kelley

Research output: Contribution to journalReview articlepeer-review


The cerebrohepatorenal syndrome of Zellweger (CHRS) is remarkable not only for a distinctive combination of congenital anomalies, but also for an unusual variety of profound metabolic disturbances. After a discussion of the clinical diagnosis of CHRS, abnormalities in the metabolism of peroxisomes, mitochondria, iron, pipecolic acid, glycogen, bile acids, and organic acids are discussed and related to the clinical and other biochemical findings in the syndrome. Attention is also drawn to syndromes with biochemical or clinical abnormalities similar to those of CHRs. Although the biochemical findings indicate major abnormalities in oxidative metabolism, the primary defect remains obscure.

Original languageEnglish (US)
Pages (from-to)503-517
Number of pages15
JournalAmerican journal of medical genetics
Issue number4
StatePublished - 1983

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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