title: NTCP deficiency: a new inherited disease of bile acid transport.
abstract: The authors report the case of a child with extreme elevation of serum bile acid concentration, without pruritus, symptomatic cholestasis, liver disease, or abnormalities of liver function tests. Sequencing of the SLC10A1 gene, encoding NTCP (the sinusoidal uptake transporter of conjugated bile acids) revealed a single homozygous point mutation in the coding sequence of the gene resulting in an arginine to histidine substitution at position 252. This mutation resulted in a markedly reduced uptake activity of taurocholic acid. This is the first report of a new inborn error of bile acid transport, due to a mutation of NTCP.
authors.affiliation: University of Paris 7, 5, rue Thomas Mann, 75013 Paris, France. Electronic address: serge.erlinger@gmail.com.
authors.forename: Serge
authors.initials: S
authors.lastname: Erlinger
mesh_terms: D002793:Cholic Acids / Q000097:blood*; D005260:Female; D006801:Humans; D029363:Organic Anion Transporters, Sodium-Dependent / Q000172:deficiency*; D043202:Steroid Metabolism, Inborn Errors / Q000235:genetics*; D027981:Symporters / Q000172:deficiency*
chemical_list: D002793:Cholic Acids; D029363:Organic Anion Transporters, Sodium-Dependent; D027981:Symporters