A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids.

@article{Christensen1997ANP,
  title={A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids.},
  author={Ernst Christensen and S\oren Anker Pedersen and Helle Leth and Cornelius Jakobs and Ruud B. H. Schutgens and Ronald Wanders},
  journal={Journal of inherited metabolic disease},
  year={1997},
  volume={20 5},
  pages={658-64}
}
Twin brothers were born with clinical symptoms indicating that they were suffering from Zellweger syndrome. However, instead of a generalized peroxisomal dysfunction, only very long-chain fatty acids and the pristanic acid/phytanic acid ratio were elevated in plasma and decreased oxidation of very long-chain fatty acids and pristanic acid was the only impairment found in fibroblasts. The other peroxisomal parameters tested were normal, including normal oxidation of phytanic acid and normal… CONTINUE READING