Inborn errors of fatty acid oxidation in man.
Inborn errors of fatty acid oxidation have only been recently identified. The clinical and biochemical presentations of these disorders are presented, as are analytic, biochemical and enzymatic approaches to their diagnosis. Recent clinical, biochemical and molecular information is summarized in detail. The identification and characterization of riboflavin-responsive beta-oxidation disorders is discussed. Approaches for clinical and biochemical screening are also described for these disorders.
Rhead
W J
WJ
Department of Pediatrics, University of Iowa, College of Medicine, Iowa City 52242.
D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000378:metabolism*; D010084:Oxidation-Reduction
D005227:Fatty Acids