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Title: Bile acids in peroxisomal disorders
Authors: Van Eldere, Johan ×
Parmentier, GG
Eyssen, HJ
Wanders, RJ
Schutgens, RB
Vamecq, J
Van Hoof, F
Poll-The, BT
Saudubray, JM #
Issue Date: Oct-1987
Publisher: Blackwell Scientific Publ.
Series Title: European Journal of Clinical Investigation vol:17 issue:5 pages:386-390
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 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.
ISSN: 0014-2972
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Clinical Bacteriology and Mycology
Laboratory for Experimental and Clinical Microbiology (-)
× corresponding author
# (joint) last author

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