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

Am J Med Genet. 1983 Dec;16(4):503-17. doi: 10.1002/ajmg.1320160409.


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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / metabolism*
  • Amino Acids, Dicarboxylic / urine
  • Bile Acids and Salts / metabolism
  • Brain Diseases / congenital*
  • Brain Diseases / metabolism
  • Glutarates / urine
  • Glycogen / metabolism
  • Humans
  • Iron / metabolism
  • Kidney Diseases / congenital*
  • Kidney Diseases / metabolism
  • Liver Diseases / congenital*
  • Liver Diseases / metabolism
  • Microbodies / metabolism
  • Mitochondria / metabolism
  • Pipecolic Acids / metabolism
  • Syndrome


  • Amino Acids, Dicarboxylic
  • Bile Acids and Salts
  • Glutarates
  • Pipecolic Acids
  • Glycogen
  • Iron