Clinical and biochemical features, molecular diagnosis and long-term management of a case of cerebrotendinous xanthomatosis

Clinica Chimica Acta

Volumn 306, Issue 1-2, 2001, Pages 63-69

  Burnett, John R ^a   Moses, Esther A ^b   Croft, Kevin D ^c   Brown, Andrew J ^d   Grainger, Keith ^e   Vasikaran, Samuel D ^a   Leitersdorf, Eran ^f   Watts, Gerald F ^c  

^a ROYAL PERTH HOSPITAL   (Australia)

^b Disability Services Commission   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d HEART RESEARCH INSTITUTE   (Australia)

^e PATHWEST LABORATORY MEDICINE   (Australia)

^f HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Cerebrotendinous xanthomatosis; Molecular diagnosis; Serum cholestanol

Indexed keywords

7 OXOCHOLESTEROL; 7ALPHA HYDROXYCHOLESTEROL; 7BETA HYDROXYCHOLESTEROL; BILE ACID; CALCIFEDIOL; CALCITRIOL; CHENODEOXYCHOLIC ACID; CHOLESTANOL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; SIMVASTATIN; STEROL 27 HYDROXYLASE; TRIACYLGLYCEROL;

ADULT; ARTICLE; BIOCHEMISTRY; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL METABOLISM; CLINICAL FEATURE; CONTROLLED STUDY; DRUG EFFECT; ELECTROCARDIOGRAM; FEMALE; HOMOZYGOSITY; HUMAN; INTRON; LONG TERM CARE; MACROPHAGE; MENTAL CAPACITY; MOLECULAR BIOLOGY; PHYSICAL CAPACITY; PRIORITY JOURNAL; TRIACYLGLYCEROL BLOOD LEVEL; VITAMIN BLOOD LEVEL;

ACHILLES TENDON; ADULT; CHOLESTANOL; CHOLESTEROL; FEMALE; HUMANS; INTRONS; LIPID METABOLISM; LIPIDS; SIMVASTATIN; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 0035078374     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(01)00391-6     Document Type: Article

References (22)

1. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol
2. Characterization of the human sterol 27-hydroxylase: A mitochondrial P-450 that catalyzes multiple oxidation reactions in bile acid biosynthesis
3. A biochemical abnormality in cerebrotendinous xanthomatosis: Impairment of bile acid synthesis associated with incomplete degradation of the cholesterol side chain
4. Clinical and biochemical findings in a patient with phytosterolaemia
5. 7-Hydroperoxycholesterol and its products in oxidized low density lipoprotein and human atherosclerotic plaque
6. Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews of Moroccan origin
7. Sterol 27-hydroxylase acts on 7-ketocholesterol in human atherosclerotic lesions and macrophages in culture
8. Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis
9. Atherogenic risk factors in cerebrotendinous xanthomatosis
10. Abnormal high density lipoproteins in cerebrotendinous xanthomatosis
11. Atherosclerosis and sterol 27-hydroxylase: Evidence for a role of this enzyme in elimination of cholesterol from human macrophages
12. Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis
13. Liver mitochondrial cytochrome P450 CYP27 and recombinant-expressed human CYP27 catalyze 1 alpha-hydroxylation of 25-hydroxyvitamin D3
14. Expression, purification, and enzymatic properties of recombinant human cytochrome P450c27 (CYP27)
15. Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene
16. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
17. Chenodeoxycholic acid normalizes elevated lipoprotein secretion and catabolism in cerebrotendinous xanthomatosis
18. Cerebrotendinous xanthomatosis: A family study of sterol 27-hydroxylase mutations and pharmacotherapy
19. Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis
20. Comparative effects of lovastatin and chenodeoxycholic acid on plasma cholestanol levels and abnormal bile acid metabolism in cerebrotendinous xanthomatosis
21. Abnormal urinary bile acids in a patient suffering from cerebrotendinous xanthomatosis during oral administration of ursodeoxycholic acid
22. Determination of cholesterol oxidation products in human plasma by isotope dilution-mass spectrometry