how to cite this article: taghdiri mm. adreno leukodystrophy. iran j child neurol. autumn 2014;8;4(suppl.1):13. pls see pdf.

X-adrenoleukodystrophy (X-ALD) is a complex disease where inactivation of ABCD1 gene results in clinically diverse phenotypes, the fatal disorder of cerebral ALD (cALD) or a milder disorder of adrenomyeloneuropathy (AMN). Loss of ABCD1 function results in defective beta oxidation of very long chain fatty acids (VLCFA) resulting in excessive accumulation of VLCFA, the biochemical "hall mark" of ...

The Saccharomyces cerevisiae SCS7 and SUR2 genes are members of a gene family that encodes enzymes that desaturate or hydroxylate lipids. Sur2p is required for the hydroxylation of C-4 of the sphingoid moiety of ceramide, and Scs7p is required for the hydroxylation of the very long chain fatty acid. Neither SCS7 nor SUR2 are essential for growth, and lack of the Scs7p- or Sur2p-dependent hydrox...

The fatty acid transport protein (FATP) family is a group of proteins that are predicted to be components of specific fatty acid trafficking pathways. In mammalian systems, six different isoforms have been identified, which function in the import of exogenous fatty acids or in the activation of very long-chain fatty acids. This has led to controversy as to whether these proteins function as mem...

Chicken has been used as a suitable model for lipid metabolism studies, because dietary modifications especially dietary fat type can change chicken body composition. Fats act as a condense source of energy and certain fatty acids such as polyunsaturated fatty acids (PUFAs) are required for both animal and human health. The n-3 PUFAs, especially, eicosapentaenoic acid (EPA) and docosahexaenoic ...

chicken has been used as a suitable model for lipid metabolism studies, because dietary modifications especially dietary fat type can change chicken body composition. fats act as a condense source of energy and certain fatty acids such as polyunsaturated fatty acids (pufas) are required for both animal and human health. the n-3 pufas, especially, eicosapentaenoic acid (epa) and docosahexaenoic ...

Mutations in the gene ELOVL4 have been shown to cause stargardt-like macular dystrophy. ELOVL4 is part of a family of fatty acid elongases and is yet to have a specific elongase activity assigned to it. We generated Elovl4 Y270X mutant mice and characterized the homozygous mutant as well as homozygous Elovl4 knockout mice in order to better understand the function or role of Elovl4. We found th...