Sitosterolaemia and xanthomatosis in a child

Hong Kong Medical Journal

Volumn 9, Issue 3, 2003, Pages 206-209

  Cheng, W F ^a   Yuen, Y P ^a   Chow, C B ^a   Au, K M ^a   Chan, Y W ^a   Tam, S C ^b  

^a PRINCESS MARGARET HOSPITAL   (Hong Kong)

^b QUEEN MARY HOSPITAL   (Hong Kong)

Author keywords

Chromatography, gas; Hypercholesterolemia; Sitosterols; Spectrum analysis, mass; Xanthomatosis

Indexed keywords

CAMPESTEROL; COLESTYRAMINE; SITOSTEROL; STIGMASTEROL;

ARTICLE; ATHEROSCLEROSIS; CASE REPORT; CHOLESTEROL BLOOD LEVEL; DIET THERAPY; DYSLIPIDEMIA; GAS CHROMATOGRAPHY; HUMAN; HYPERCHOLESTEROLEMIA; MALE; MASS SPECTROMETRY; PRESCHOOL CHILD; SITOSTEROLEMIA; XANTHOMATOSIS;

CHILD, PRESCHOOL; CHOLESTEROL; HUMANS; MALE; SITOSTEROLS; XANTHOMATOSIS;

EID: 0038352240     PISSN: 10242708     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. Lam CW, Cheng AW, Tong SF, Chan YW. Novel donor splice site mutation of ABCG5 gene in sitosterolemia. Mol Genet Metab 2002; 75:178-80.
2. Bhattacharyya AK, Connor WE. Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest 1974;53:1033-43.
3. Lutjohann D, von Bergmann K. Phytosterolaemia: diagnosis, characterization and therapeutical approaches. Ann Med 1997;29:181-4.
4. Belamarich PF, Deckelbaum RJ, Starc TJ, Dobrin BE, Tint GS, Salen G. Response to diet and cholestyramine in a patient with sitosterolemia. Pediatrics 1990;86:977-81.
5. McArthur RG, Roncari DA, Little JA, Kuksis A, Myher JJ, Marai L. Phytosterolemia and hypercholesterolemia in childhood. J Pediatr 1986;108:254-6.
6. Lee MH, Lu K, Patel SB. Genetic basis of sitosterolemia. Curr Opin Lipidol 2001;12:141-9.
7. Bjorkhem I, Boberg KM, Leitersdorf E. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol. In: Scriver CR, Beandet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. 8th ed. New York: McGraw-Hill; 2001:2961-82.
8. Low LC, Lin HJ, Lau KS, Kung AW, Yeung CY. Phytosterolemia and pseudohomozygous type II hypercholesterolemia in two Chinese patients. J Pediatr 1991;118:746-9.
9. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beandet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. 8th ed. New York: McGraw-Hill; 2001:2895.
10. Hamada K, Tanaka T, Yoshii O, et al. Pseudohomozygous type II hyperlipoproteinemia. Jinrui Idengaku Zasshi 1982;27:259-64.
11. Gregg RE, Connor WE, Lin DS, Brewer HB Jr. Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis. J Clin Invest 1986;77:1864-72.