2.45 ±0.88 (n = 11)

0.13 ±0.02 (n =


Refsum disease

<0.05 (n = 1)

0.01+0.01 (n =


Zellweger syndrome

< 0.05 (n = 3)

0.03 ±0.01 (n =


♦See7 for details.

♦See7 for details.

ity in fibroblast homogenates from patients with RD, as well as from patients with Zellweger syndrome (ZS) in which peroxisomes are deficient due to a defect in peroxisome biogenesis.13 Both types of patients are clearly deficient in PhyH activity (Table 1), which corresponds exactly to our previous findings in liver material from patients with RD and ZS.5,7 Measurement of PhyH activity in fibroblasts from patients with classical RD revealed a complete deficiency of PhyH activity, which is due to mutations in the PHYH gene.6 In the case of ZS the deficiency of PhyH activity is a secondary consequence of the absence of peroxisomes in these patients. The PhyH protein is probably normally synthesised, but will not function properly or will be broken down in the cytosol as found for other peroxisomal proteins/4

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