Table 1

Peroxisome functions in tissues from our patients compared to selected patients from the literature

Normal valuesPBD-ZSD patients selected from the literature with milder phenotypes
UnitsMean±SD or rangeZellweger syndromePatient 1 valuesPatient 2 valuesPBD-ZSD1*Sib II-7PBD-ZSDPBD-ZSD§
Plasma metabolites
 C26:0μg/ml0.23±0.093.93± μM (0.5±0.13)0.50.510.24
 Phytanic acidμg/ml<3.03.35158 μM (nl<15) μM (nl<15)
 Pristanic acidμg/ml<0.32.02ND1.9550 μM (nl<2)
 Pipecolic acidμM1.7±1.144.0±56.222.7ND2.117.280
RBC plasmalogens
 C16:0 DMA/C16:0 fatty acid0.079–0.1280.001–0.0310.077ND0.0750.06
 C18:0 DMA/C18:0 fatty acid0.199–0.2840.001–0.1890.22ND0.15
Urine bile acidsNormal patternElevated bile acid intermediatesNormal pattern**NDElevated bile acid intermediates
Cultured fibroblastsND
Plasmalogen biosynthesis3H/14C0.67±1.91.043ND2.033.103.400.70
Phytanic acid oxidation% Mean control20ND4.38.33290
% Cytosolic catalase21.4±11.173ND8480ND27
Pristanic acid oxidation% Mean control65.12581.6
  • * PEX1 p.G843D homozygote adult with mild mental retardation, leukodystrophy, sensorineural hearing loss and retinitis pigmentosa.

  • PEX26 p.R98W homozygote 14-year old with sensorineural hearing loss, retinitis pigmentosa, dental enamel dysplasia and mild to moderate mental retardation.

  • PEX6 c.2094+2T > C/p.I845T adult with cholestatic liver disease in infancy, sensorineural hearing loss, retinitis pigmentosa and borderline normal cognition.

  • § PEX10 p.L113fs39X/p.L297P adult with ataxia, cerebellar atrophy and stable leukodystrophy and with normal intellect.

  • Typically elevated dihydroxycholestanoic, trihydroxycholestanoic and tetrahydroxycholestanoic (C27) bile acids.

  • ** There were low levels of taurine- and glycine-conjugated monohydroxy and dihydroxy bile acids.

  • DMA, dimethylacetal; nl, normal; nd, not done; PBD, peroxisome biogenesis disorder; RBC, red blood cell; ZSD, Zellweger spectrum disorder.