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Bile acids in peroxisomal disorders.

J R Van Eldere1, G G Parmentier, H J Eyssen

  • 1Rega Institute, University of Leuven, Belgium.

European Journal of Clinical Investigation
|October 1, 1987
PubMed
Summary
This summary is machine-generated.

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Serum bile acid precursors are elevated in certain peroxisomal disorders like Zellweger syndrome. Measuring bile acid precursors and very long chain fatty acids offers a reliable method for detecting these conditions.

Area of Science:

  • Biochemistry
  • Medical Genetics
  • Pediatric Endocrinology

Background:

  • Peroxisomal disorders are a group of rare genetic diseases affecting peroxisome function.
  • Bile acid metabolism is often impaired in individuals with peroxisomal disorders.

Purpose of the Study:

  • To investigate serum bile acid profiles in patients with various peroxisomal disorders.
  • To evaluate the utility of bile acid precursor analysis as a diagnostic tool for peroxisomal diseases.

Main Methods:

  • Serum samples were analyzed for total bile acids and bile acid precursors.
  • Patients with Zellweger syndrome, infantile Refsum disease, neonatal adrenoleukodystrophy, X-linked adrenoleukodystrophy, classical Refsum disease, hyperpipecolic acidaemia, and rhizomelic chondrodysplasia punctata were included.

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  • Very long chain fatty acids analysis was also performed.

    • Main Results:

    • Elevated bile acid precursors were consistently observed in Zellweger syndrome, infantile Refsum disease, and neonatal adrenoleukodystrophy.
    • Patients with X-linked adrenoleukodystrophy, classical Refsum disease, hyperpipecolic acidaemia, and rhizomelic chondrodysplasia punctata did not show increased bile acid precursors.
    • Highest levels of total serum bile acids and bile acid precursors were found in typical Zellweger patients who died young.
    • Longer-living Zellweger patients, neonatal adrenoleukodystrophy, and infantile Refsum disease patients exhibited lower percentages of bile acid precursors and less cholestasis.
    • Serum bile acids and bile acid precursor percentages decreased with age in long-living Zellweger patients.

    Conclusions:

    • Serum bile acid precursor levels can serve as an indicator for specific peroxisomal disorders.
    • Combined screening of bile acid precursors and very long chain fatty acids is an effective first-line diagnostic approach for peroxisomal disorders.
    • Age and clinical presentation correlate with bile acid profiles in peroxisomal disorders.