Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism.
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.
Federico
A
A
Istituto di Scienze Neurologiche, Università di Siena, Italy.
Dotti
M T
MT
Loré
F
F
Nuti
R
R
D015502:Absorptiometry, Photon; D000328:Adult; D000469:Alkaline Phosphatase / Q000097:blood; D015519:Bone Density; D001842:Bone and Bones / Q000378:metabolism*; D002118:Calcium / Q000097:blood; D002635:Chenodeoxycholic Acid / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D010024:Osteoporosis / Q000378:metabolism*; D010710:Phosphates / Q000097:blood; D014807:Vitamin D / Q000097:blood; D014973:Xanthomatosis / Q000378:metabolism / Q000503:physiopathology*
D010710:Phosphates; D002635:Chenodeoxycholic Acid; D014807:Vitamin D; D000469:Alkaline Phosphatase; D002118:Calcium