Interestingly, also in a liver biopsy of an atypical RCDP patient, with an extreme accumulation of phytanic acid in plasma (940 μM versus 0.01-10 μM in controls), cytoplasmic catalase and absence of catalase-containing peroxisomes were noticed in all hepatocytes (Espeel et al., 1993). Here, CAT is linked to rhizomelic chondrodysplasia punctata.