Literature DB >> 9584266

Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates.

J S Sequeira1, A Vellodi, M T Vanier, P T Clayton.   

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 beta-oxidation of branched-chain substrates (3 alpha, 7 alpha, 12 alpha-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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Year:  1998        PMID： 9584266     DOI： 10.1023/a:1005395709826

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  8 in total

1.  Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing.

Authors:  M T Vanier; C Rodriguez-Lafrasse; R Rousson; N Gazzah; M C Juge; P G Pentchev; A Revol; P Louisot
Journal:  Biochim Biophys Acta       Date:  1991-06-05

2.  A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency.

Authors:  E Christensen; J Van Eldere; N J Brandt; R B Schutgens; R J Wanders; H J Eyssen
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

Authors:  E D Carstea; J A Morris; K G Coleman; S K Loftus; D Zhang; C Cummings; J Gu; M A Rosenfeld; W J Pavan; D B Krizman; J Nagle; M H Polymeropoulos; S L Sturley; Y A Ioannou; M E Higgins; M Comly; A Cooney; A Brown; C R Kaneski; E J Blanchette-Mackie; N K Dwyer; E B Neufeld; T Y Chang; L Liscum; J F Strauss; K Ohno; M Zeigler; R Carmi; J Sokol; D Markie; R R O'Neill; O P van Diggelen; M Elleder; M C Patterson; R O Brady; M T Vanier; P G Pentchev; D A Tagle
Journal:  Science       Date:  1997-07-11       Impact factor: 47.728

4.  Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.

Authors:  S J Steinberg; C P Ward; A H Fensom
Journal:  J Med Genet       Date:  1994-04       Impact factor: 6.318

5.  Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidation.

Authors:  P T Clayton; A W Johnson; K A Mills; G W Lynes; J Wilson; M Casteels; G Mannaerts
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

6.  Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

Authors:  M T Vanier; S Duthel; C Rodriguez-Lafrasse; P Pentchev; E D Carstea
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

7.  Sterol carrier protein X is peroxisomal 3-oxoacyl coenzyme A thiolase with intrinsic sterol carrier and lipid transfer activity.

Authors:  U Seedorf; P Brysch; T Engel; K Schrage; G Assmann
Journal:  J Biol Chem       Date:  1994-08-19       Impact factor: 5.157

Review 8.  Inborn errors of bile acid metabolism.

Authors:  P T Clayton
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
  8 in total
  5 in total

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Authors:  Irina N Bespalova; Martina Durner; Benjamin P Ritter; Gary W Angelo; Enrique Rossy-Fullana; Jose Carrion-Baralt; James Schmeidler; Jeremy M Silverman
Journal:  Schizophr Res       Date:  2010-09-26       Impact factor: 4.939

Review 2.  Peroxisomes of the Brain: Distribution, Functions, and Associated Diseases.

Authors:  Rachayeeta Deb; Neha Joshi; Shirisha Nagotu
Journal:  Neurotox Res       Date:  2021-01-05       Impact factor: 3.911

Review 3.  Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism.

Authors:  Paul P Van Veldhoven
Journal:  J Lipid Res       Date:  2010-06-17       Impact factor: 5.922

Review 4.  Oxidative stress: a pathogenic mechanism for Niemann-Pick type C disease.

Authors:  Mary Carmen Vázquez; Elisa Balboa; Alejandra R Alvarez; Silvana Zanlungo
Journal:  Oxid Med Cell Longev       Date:  2012-06-05       Impact factor: 6.543

5.  Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease.

Authors:  Elena-Raluca Nicoli; Nada Al Eisa; Celine V M Cluzeau; Christopher A Wassif; James Gray; Kathryn R Burkert; David A Smith; Lauren Morris; Stephanie M Cologna; Cody J Peer; Tristan M Sissung; Constantin-Daniel Uscatu; William D Figg; William J Pavan; Charles H Vite; Forbes D Porter; Frances M Platt
Journal:  PLoS One       Date:  2016-03-28       Impact factor: 3.752
  5 in total

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