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Niemann–Pick disease type C and defective peroxisomal β‐oxidation of branched‐chain substrates
Author(s) -
Sequeira J. S. S.,
Vellodi A.,
Vanier M. T.,
Clayton P. T.
Publication year - 1998
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005395709826
Subject(s) - peroxisome , peroxisomal disorder , human genetics , disease , chain (unit) , biochemistry , chemistry , biology , medicine , gene , physics , astronomy
Abstract 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.