Bile acids in peroxisomal disorders

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Abstract
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 μg 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 longliving Zellweger patients. Screening for bile acid precursors, combined with very long chain fatty acids analysis is, in our experience, an easy and reliable firstline approach to the detection of peroxisomal disorders.

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