Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups 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 β-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. (J P EDIATR 1995;127:13-22) http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png The Journal of Pediatrics Elsevier

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Publisher
Elsevier
Copyright
Copyright © 1995 Mosby, Inc.
ISSN
0022-3476
DOI
10.1016/S0022-3476(95)70250-4
Publisher site
See Article on Publisher Site

Abstract

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 β-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. (J P EDIATR 1995;127:13-22)

Journal

The Journal of PediatricsElsevier

Published: Jul 1, 1995

References

  • Protein import into peroxisomes and biogenesis of the organelle
    Subramani, S
  • Identification of peroxisomal targeting signals located at the carboxy terminus of four peroxisomal proteins
    Gould, SJ; Keller, GA; Subramani, S
  • Peroxisome assembly mutations in humans: structural heterogeneity in Zellweger syndrome
    Santos, MJ; Hoefler, S; Moser, AB; Moser, HW; Lazarow, PB
  • Antibodies directed against the peroxisomal targeting signal of firefly luciferase recognize multiple mammalian peroxisomal proteins
    Gould, SJ; Krisans, S; Keller, GA; Subramani, S
  • An efficient positive selection procedure for the isolation of peroxisomal import and peroxisomal assembly of Saccharomyces cerevisiae
    Elgersma, Y; van den Berg, M; Tabak, HF; Distel, B
  • Ataxia and peripheral neuropathy: a benign variant of peroxisome dysgenesis
    MacCollin, M; DeVivo, DC; Moser, AB; Beard, M
  • Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy
    Wilson, GN; Holmes, RG; Custer, J
  • Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes
    Kelley, RI; Datta, NS; Dobyns, WB

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