NIEMANN-PICK DISEASE TYPE-C AND DEFECTIVE PEROXISOMAL BETA-OXIDATION OF BRANCHED-CHAIN SUBSTRATES

Authors
SEQUEIRA JSS VELLODI A VANIER MT CLAYTON PT
Citation
Jss. Sequeira et al., NIEMANN-PICK DISEASE TYPE-C AND DEFECTIVE PEROXISOMAL BETA-OXIDATION OF BRANCHED-CHAIN SUBSTRATES, Journal of inherited metabolic disease, 21(2), 1998, pp. 149-154
Citations number
13
Categorie Soggetti
Endocrynology & Metabolism","Genetics & Heredity
Journal title
Journal of inherited metabolic disease → ACNP
ISSN journal
01418955
Volume
21
Issue
2
Year of publication
1998
Pages
149 - 154
Database
ISI
SICI code
0141-8955(1998)21:2<149:NDTADP>2.0.ZU;2-Y
Abstract
An 18-month-old infant presented with hypotonia, motor delay, hepatosp lenomegaly, rickets and steatorrhoea. Biochemical investigations revea led typical features of Niemann-Pick disease type C. In addition, ther e was evidence of defective peroxisomal beta-oxidation of branched-cha in substrates (3 alpha,7 alpha,12 alpha-trihydroxycholestanoic acid an d pristanic acid). The steatorrhoea and fat-soluble vitamin malabsorpt ion responded well to bile acid therapy. Possible causes for the doubl e defect are considered.