Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

J Pediatr. 1995 Jul;127(1):13-22. doi: 10.1016/s0022-3476(95)70250-4.


Objective: To use the technique of complementation analysis to help define genotype and classify patients with clinical manifestations consistent with those of the disorders of peroxisome assembly, namely the Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP).

Study design: Clinical findings, peroxisomal function, and complementation groups were examined in 173 patients with the clinical manifestations of these disorders.

Results: In 37 patients (21%), peroxisome assembly was intact and isolated deficiencies of one of five peroxisomal enzymes involved in the beta-oxidation of fatty acids or plasmalogen biosynthesis were demonstrated. Ten complementation groups were identified among 93 patients (54%) with impaired peroxisome assembly and one of three phenotypes (ZS, NALD, or IRD) without correlation between complementation group and phenotype. Forty-three patients (25%) had impaired peroxisome assembly associated with the RCDP phenotype and belonged to a single complementation group. Of the 173 patients, 10 had unusually mild clinical manifestations, including survival to the fifth decade or deficits limited to congenital cataracts.

Conclusions: At least 16 complementation groups, and hence genotypes, are associated with clinical manifestations of disorders of peroxisome assembly. The range of phenotype is wide, and some patients have mild involvement.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acyltransferases / deficiency
  • Adrenoleukodystrophy / blood
  • Adrenoleukodystrophy / enzymology
  • Adrenoleukodystrophy / genetics*
  • Adult
  • Cells, Cultured
  • Child
  • Fatty Acids
  • Female
  • Genetic Complementation Test
  • Genotype
  • Humans
  • Male
  • Microbodies / genetics*
  • Middle Aged
  • Phenotype*
  • Refsum Disease / blood
  • Refsum Disease / enzymology
  • Refsum Disease / genetics*
  • Zellweger Syndrome / blood
  • Zellweger Syndrome / enzymology
  • Zellweger Syndrome / genetics*


  • Fatty Acids
  • Acyltransferases