Very Long Chain Fatty Acids

Test ID:

706669

CPT code:

82726

Clinical Use:

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.