Biochemical abnormalities in rhizomelic chondrodysplasia punctata

Gerald Hoefler, Sigrid Hoefler, Paul A. Watkins, Winston W. Chen, Ann Moser, Virginia Baldwin, B. McGillivary, Joel Charrow, J. M. Friedman, Lane Rutledge, Takashi Hashimoto, Hugo W. Moser*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

107 Scopus citations


Biochemical studies with emphasis on peroxisomal functions were conducted in six patients with well-documented rhizomelic chondrodysplasia punctata (RCDP) and compared with findings in patients with Zellweger syndrome and neonatal adrenoleukodystrophy (ALD). Patients with RCDP had three characteristic biochemical abnormalities: (1) profound defect in plasmalogen (ether lipid) synthesis, which is significantly greater than the analogous defect in Zellweger syndrome or neonatal ALD; (2) reduction of phytanic acid oxidation activity to 1% to 5% of control, similar to that observed in Refsum disease, Zellweger syndrome, and neonatal ALD; (3) presence of the unprocessed form of peroxisomal 3-oxoacyl-coenzyme A thiolase in the postmortem liver of two patients. Other peroxisomal functions were normal, including levels of very long chain fatty acids, pipecolic acid, and bile acid intermediates, and immunoblot studies of peroxisomal acyl-CoA oxidase and bifunctional enzyme in postmortem liver. Unlike what is observed in Zellweger syndrome and neonatal ALD, catalase activity in cultured skin fibroblasts was sedimentable, indicating that peroxisome structure is not grossly deficient in RCDP. The biochemical abnormalties in RCDP were consistent and set it apart from all the other known peroxisomal disorders.

Original languageEnglish (US)
Pages (from-to)726-733
Number of pages8
JournalThe Journal of pediatrics
Issue number5
StatePublished - May 1988

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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