Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

Ann B. Moser, Magnhild Rasmussen, Sakkubai Naidu, Paul A. Watkins, Martina McGuinness, Amiya K. Hajra, Grace Chen, Gerald Raymond, Angela Liu, Donald Gordon, Karen Garnaas, David S. Walton, Ola H. Skjeldal, Mary Anne Guggenheim, Laird G. Jackson, Ellen Roy Elias, Hugo W. Moser

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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 PEDIATR 1995;127:13-22).

Original languageEnglish (US)
Pages (from-to)13-22
Number of pages10
JournalJournal of Pediatrics
Volume127
Issue number1
DOIs
Publication statusPublished - 1995
Externally publishedYes

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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