title: Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.
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).
  
  
  METHODS
  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.
authors.affiliation: Kennedy Krieger Institute, Baltimore, MD 21205, USA.
authors.forename: A B
authors.initials: AB
authors.lastname: Moser
authors.forename: M
authors.initials: M
authors.lastname: Rasmussen
authors.forename: S
authors.initials: S
authors.lastname: Naidu
authors.forename: P A
authors.initials: PA
authors.lastname: Watkins
authors.forename: M
authors.initials: M
authors.lastname: McGuinness
authors.forename: A K
authors.initials: AK
authors.lastname: Hajra
authors.forename: G
authors.initials: G
authors.lastname: Chen
authors.forename: G
authors.initials: G
authors.lastname: Raymond
authors.forename: A
authors.initials: A
authors.lastname: Liu
authors.forename: D
authors.initials: D
authors.lastname: Gordon
mesh_terms: D000217:Acyltransferases / Q000172:deficiency; D000326:Adrenoleukodystrophy / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D000328:Adult; D002478:Cells, Cultured; D002648:Child; D005227:Fatty Acids; D005260:Female; D005816:Genetic Complementation Test; D005838:Genotype; D006801:Humans; D008297:Male; D008830:Microbodies / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype; D012035:Refsum Disease / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D015211:Zellweger Syndrome / Q000097:blood / Q000201:enzymology / Q000235:genetics*
chemical_list: D005227:Fatty Acids; D000217:Acyltransferases