Abstract
Peroxisome mosaics are livers (Fig. 1) that display cells with normal peroxisomes (Px) adjacent to cells that resemble Zellweger hepatocytes, i.e. catalase and AGT are in the cytoplasm, and macrophages contain trilamellar inclusions and insoluble lipid droplets. Peroxisome containing hepatocytes represent between 1-10% of the liver parenchyma in the biopsy-or autopsy sample. Blood and urine metabolites of most patients give proof of impaired peroxisomal fatty acid oxidation of straight and branched chains, and of pipecolic acid. We have seen at least 10 of such patients; 5 were reported in detail (Espeel et al, 1995a; Giros et al, 1996; Mandel et al, 1994; Pineda et al, 1999; Roels et al, 1996), 3 in abstract form (Espeel et al, 1998; Poll- The et al, 1998; Saudubray et al; 1997). Two novel cases were detected, and more data have become available since then. Table 1 summarizes clinical and biochemical features, and their follow-up until 2003.
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Roels, F. et al. (2003). Peroxisome Mosaics. In: Roels, F., Baes, M., De Bie, S. (eds) Peroxisomal Disorders and Regulation of Genes. Advances in Experimental Medicine and Biology, vol 544. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-9072-3_14
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DOI: https://doi.org/10.1007/978-1-4419-9072-3_14
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