Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism

J Neurol Sci. 1993 Mar;115(1):67-70. doi: 10.1016/0022-510x(93)90068-a.

Abstract

A condition of osteopenia in some cerebrotendinous xanthomatosis (CTX) patients led us to investigate bone metabolism in 8 patients belonging to 5 families. Serum calcium, phosphate and vitamin D metabolites were in the normal range; a reduction in total body density and impairment of intestinal radiocalcium absorption were found in the majority of our patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Absorptiometry, Photon
  • Adult
  • Alkaline Phosphatase / blood
  • Bone Density
  • Bone and Bones / metabolism*
  • Calcium / blood
  • Chenodeoxycholic Acid / metabolism
  • Female
  • Humans
  • Male
  • Osteoporosis / metabolism*
  • Phosphates / blood
  • Vitamin D / blood
  • Xanthomatosis / metabolism
  • Xanthomatosis / physiopathology*

Substances

  • Phosphates
  • Chenodeoxycholic Acid
  • Vitamin D
  • Alkaline Phosphatase
  • Calcium