Bile acids in peroxisomal disorders.
We examined serum bile acids in patients with different peroxisomal disorders. Patients with Zellweger syndrome (n = 23), infantile form of Refsum disease (n = 6) and neonatal adrenoleukodystrophy (n = 4) consistently had increased levels of bile acid precursors. Patients with X-linked adrenoleukodystrophy, (n = 5) classical Refsum disease (n = 3), hyperpipecolic acidaemia (n = 4) and rhizomelic chondrodysplasia punctata (n = 9) did not have increased bile acid precursor levels. Total serum bile acids (41 micrograms ml-1) and the percentage of bile acid precursors (80%) were highest in typical Zellweger patients who died young. Long-living Zellweger patients, neonatal adrenoleukodystrophy patients and infantile Refsum disease patients had, on average, less cholestasis and a lower percentage of bile acid precursors. We also observed that total serum bile acids and the percentage of bile acid precursors decreased with age in long-living Zellweger patients. Screening for bile acid precursors, combined with very long chain fatty acids analysis is, in our experience, an easy and reliable first-line approach to the detection of peroxisomal disorders.
D000326:Adrenoleukodystrophy / Q000378:metabolism; D001647:Bile Acids and Salts / Q000378:metabolism*; D002849:Chromatography, Gas; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000378:metabolism*; D008830:Microbodies / Q000378:metabolism*; D012035:Refsum Disease / Q000378:metabolism
D001647:Bile Acids and Salts