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 of one or more metabolites derived from the blocked metabolic steps. Specific accumulations are used for the differential biochemical diagnosis of numerous peroxisomal disorders, including Zellweger spectrum disorders, X-linked adrenoleukodystrophy (X‑ALD), X‑linked adrenomyeloneuropathy (X‑AMN), Refsum disease (phytanoyl‑CoA hydroxylase deficiency), and 2‑methylacyl‑CoA racemase deficiency.