Niemann–Pick disease type C and defective peroxisomal β-oxidation of branched-chain substrates

@article{Sequeira1998NiemannPickDT,
  title={Niemann–Pick disease type C and defective peroxisomal β-oxidation of branched-chain substrates},
  author={J S Sequeira and Ashok Vellodi and Marie Th{\'e}r{\`e}se Vanier and Peter Clayton},
  journal={Journal of Inherited Metabolic Disease},
  year={1998},
  volume={21},
  pages={149-154}
}
  • J S Sequeira, Ashok Vellodi, +1 author Peter Clayton
  • Published in
    Journal of Inherited…
    1998
  • Biology, Medicine
  • An 18-month-old infant presented with hypotonia, motor delay, hepatosplenomegaly, rickets and steatorrhoea. Biochemical investigations revealed typical features of Niemann–Pick disease type C. In addition, there was evidence of defective peroxisomal β-oxidation of branched-chain substrates (3α,7α,12α-trihydroxycholestanoic acid and pristanic acid). The steatorrhoea and fat-soluble vitamin malabsorption responded well to bile acid therapy. Possible causes for the double defect are considered. 

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    References

    Publications referenced by this paper.
    SHOWING 1-10 OF 12 REFERENCES

    Di- and trihydroxycholestanoic acidaemia with hepatic failure

    VIEW 1 EXCERPT

    The 58 kDa peroxisomal sterol-carrier protein/thiolase SCPx is the main thiolase involved in branched-chain fatty acid oxidation : implications for the disorders of peroxisomal fatty acid oxidation

    • RJA Wanders, S Denis, +3 authors U Seedorf
    • J Inher Metab Dis
    • 1997
    VIEW 1 EXCERPT

    A defect in b - oxidation of bile acidsC 27 and pristanic acid in an adult ?

    • J Allen, AY Brown, BN McLean, CA Pennock
    • J Inher Metab Dis
    • 1996
    VIEW 1 EXCERPT

    A defect in b-oxidation of bile acids

    • J Allen, AY Brown, BN McLean, CA Pennock
    • 1996
    VIEW 1 EXCERPT

    NiemmanÈPick diseases

    • MT Vanier, K Suzuki
    • In Moser HW, ed. Handbook of Clinical Neurology,
    • 1996
    VIEW 1 EXCERPT

    NiemannÈPick disease type C: a cellular cholesterol lipidosis

    • PG Pentchev, MT Vanier, K Suzuki, MC Patterson
    • T he Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York : McGraw-Hill,
    • 1995
    VIEW 3 EXCERPTS