Zellweger spectrum

Zellweger-spectrum-like Late onset neuropathy Refsum s disease... 

Table 41-4 shows that nine of the 12 Zellweger spectrum disorders show a considerable range of severity of clinical manifestations. Clinical and biochemical studies do not correlate with the type of gene defect. There is, however, considerable correlation between the severity of clinical manifestations and the degree to which a specific mutation compromises import function in vitro. For example in PEX1 deficiency, 75% of patients with the G843D allele, in which import is 15% retained, had the relatively mild IRD phenotype, compared to those with the C.2097insT, which abolishes import completely, where only 13% had the IRD phenotype. Such correlations also exist in patients with the PEX 7 defect [ 10]. 

Barth, P. G., Majoie, C. B., Gootjes, J. et al. Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival. Neurology 62 439-444, 2004. 

The Zellweger spectrum is quite wide, ranging from the severe neonatal type, with characteristic dysmorphic signs and extreme hypotonia, to the milder types, with prolonged survival characterised by psychomotor retardation, hypotonia, and... 

Table 3.4.1 Levels of very-long-chain fatty acids (VLCFA), pristanic acid and phytanic acid in the different peroxisomal disorders. AMACR 2-methyl acyl-CoA racemase, N normal, RCDP rhizomelic chondrodysplasia punctata, SCP-x sterol carrier protein, ZSDs Zellweger spectrum disorders,...

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