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Very Long Chain Fatty Acids
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Liquid Chromatography/Mass Spectrometry (LC/MS)
Peroxisomes play a vital role in several metabolic pathways, including the synthesis of plasmalogens and bile acids. They are also involved in the catabolism of Very Long Chain Fatty Acids (VLCFAs), phytanic acid, and pristanic acid. Defects in these pathways usually result in the accumulation in tissues and body fluids of one or more metabolites derived from the blocked metabolic steps. Specific accumulations are used for the differential biochemical diagnosis of numerous peroxisomal disorders. These disorders include (A) Zellweger spectrum disorders of peroxisomal biogenesis, (B) X-linked adrenoleukodystrophy (X-ALD) and its adult form X-linked adrenomyeloneuropathy (X-AMN), (C) Refsum disease (Phytanoyl-CoA hydroxylase Deficiency), and (D) 2-methylacyl-CoA racemase deficiency.
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Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.
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