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A new peroxisomal β‐oxidation disorder in twin neonates: Defective oxidation of both cerotic and pristanic acids
Author(s) -
Christensen E.,
Pedersen S. Anker,
Leth H.,
Jakobs C.,
Schutgens R. B. H.,
Wanders R. J. A.
Publication year - 1997
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005318308422
Subject(s) - peroxisome , peroxisomal disorder , zellweger syndrome , human genetics , oxidation reduction , medicine , biochemistry , chemistry , genetics , endocrinology , bioinformatics , biology , gene
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 activity of dihydroxyacetonephosphate acyltransferase in fibroblasts as well as normal plasma bile acids. Although the biochemical results point to a defect in peroxisomal β‐oxidation, the isolated finding of impaired oxidation of very long‐chain fatty acids and pristanic acid has to our knowledge not been reported previously and is difficult to explain by a deficiency of a known peroxisomal β‐oxidation enzyme.