Heterogeneity in di/Trihydroxycholestanoic Acidaemia

Christensen E van Eldere J Brandt NJ Schutgens RBH Wanders RJA Eyssen HJ A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency. J Inher Metab Dis 1990; 13: 363–6

Przyrembel H Wanders RJA van Roermund CWT Schutgens RBH Mannaerts GP Casteels M Di- and trihydroxycholestanoic acidaemia with hepatic failure. J Inher Metab Dis 1990; 13: 367–70

ten Brink HJ Stellaard F van den Heuvel CMM Kok RM Schor DSM Wanders RJA Jakobs C Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography. J Lipid Res 1992; 33: 41–7

Singh H Brogan M Johnson D Poulos A Peroxisomal β-oxidation of branched chain fatty acids in human skin fibroblasts. J Lipid Res 1992; 33: 1597–605

ten Brink HJ Schor DSM Kok RM Poll-The BT Wanders RJA Jakobs C Phytanic acid a-oxidation: presence of 2-hydroxyphytanic acid and absence of 2-oxophytanic acid in plasma from patients with peroxisomal disorders. J Lipid Res 1992; 33: 1449–57

Vanhove GF Van Veldhoven PP Fransen M Denis S Eyssen HJ Wanders RJA Mannaerts GP The CoA esters of 2-methyl-branched chain fatty acids and of the bile acid intermediates di- and trihydroxycoprostanic acids are oxidized by one single peroxisomal branched chain acyl-CoA oxidase in human liver and kidney. J Biol Chem 1993; 268: 10335–44

Schepers L Van Veldhoven PP Casteels M Eyssen HJ Mannaerts GP Presence of three acyl-CoA oxidases in rat liver peroxisomes: an inducible fatty acyl-CoA oxidase, a non-inducible fatty acyl-CoA oxidase and a non-inducible trihydroxycoprostanoyl-CoA oxidase. J Biol Chem 1990; 265: 5242–6