Long-chain fatty acid uptake defect

Long-chain fatty acid uptake defect 603376 <1 100,000 Liver disease /... 

In contrast to the general peroxisome biogenesis defects, patients with X-linked adrenoleucodystrophy, whose very-long-chain fatty acid oxidation is impaired as a result of an uptake defect, show minimal abnormalities of their DHA levels. 

Al Odaib and colleagues have described two children who had recurrent episodes of liver disease culminating in liver failure and who underwent liver transplantation [18]. The laboratory data, as well as the hepatic acyl-carnitine profile in one of those patients, were interpreted as suggestive of a fatty acid oxidation disorder. Cultured fibroblasts derived from both patients showed a moderate reduction in the uptake and oxidation of oleic and palmitic acid. It was concluded that an impairment in the uptake of long-chain fatty acids, probably caused by a defective transporter, was the cause of liver disease in these patients [18]. The molecular defect remains undetermined in particular, the relationship between this putative Tiver/fi-broblast LCFA transporter and the widely expressed CD36/LCFA transporter molecule, a genetic deficiency of which is rather common and may be implicated in cardiomyopathy, is unclear [19]. 

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