These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: A case of cerebrotendinous xanthomatosis: effects of ursodeoxycholic acid administration on serum bile acids and cholestanol.
    Author: Kimura S, Beppu T, Kugai N, Koide Y, Fujita T, Iida K, Yamashita N, Yamashita K, Seyama Y.
    Journal: Jpn J Med; 1982 Jul; 21(3):210-5. PubMed ID: 7143816.
    Abstract:
    Cerebrotendinous xanthomatosis (CTX) is a rare familiar disease characterized by tendon xanthomas, cataracts, cerebellar ataxia, dementia and an elevated serum cholestanol level. In this paper, a 50-year-old man with typical signs and symptoms of CTX is described. Serum cholestanol and chelesterol concentrations were 17.9-28.6 micrograms/ml and 109-153 mg/dl, respectively. The determination of non-sulfated bile acid concentration in the serum assayed by mass fragmentography disclosed an abnormal profile. The concentration of cholic acid (0.30-0.52 microgram/ml) was higher than normal, while those of chenodeoxycholic acid, ursodeoxycholic acid, deoxycholic acid and lithocholic acid were extremely low or undetectable. Administration of ursodeoxycholic acid (300 mg per day, orally) for 2 weeks resulted in a marked reduction of serum cholic acid concentration. However, serum cholestanol levels remained unchanged.
    [Abstract] [Full Text] [Related] [New Search]