Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.

Abstract

Serum 26-hydroxycholesterol was quantitated by isotope dilution-mass spectrometry in normal individuals and in patients with cerebrotendinous xanthomatosis. In the normal individuals, the concentration of 26-hydroxycholesterol in serum ranged from 4.3 to 13.0 microgram/100 ml. In five patients with CTX, 26-hydroxycholesterol in serum ranged from 0 to 0.6 microgram/100 ml. The findings can be explained by reduced or absent mitochondrial C27 steroid 26-hydroxylase activity. The method is useful for detection of CTX and perhaps other disturbances of sterol and bite acid metabolism.

• Authors: N B Javitt, E Kok, B Cohen, S Burstein
• Journal: Journal of lipid research (J Lipid Res) Vol. 23 Issue 4 Pg. 627-30 (May 1982) ISSN: 0022-2275 [Print] United States
• PMID: 7097127 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Hydroxycholesterols
• Steroid Hydroxylases
• CYP27A1 protein, human
• Cholestanetriol 26-Monooxygenase

Topics

• Brain Diseases, Metabolic (blood)
• Cholestanetriol 26-Monooxygenase
• Gas Chromatography-Mass Spectrometry
• Humans
• Hydroxycholesterols (blood)
• Lipid Metabolism, Inborn Errors (blood)
• Mitochondria (enzymology)
• Reference Values
• Steroid Hydroxylases (metabolism)
• Xanthomatosis (blood)