β-Sitosterolemia with generalized eruptive xanthomatosis

Endocrine Journal

Volumn 44, Issue 1, 1997, Pages 59-64

  Hidaka, Hideki ^a   Sugiura, Hisatsugu ^a   Nakamura, Taka Aki ^a   Kojima, Hideto ^a   Fujita, Masahiro ^a   Sugie, Nobuo ^a   Okabe, Hidetoshi ^a   Nishio, Yoshihiko ^a   Maegawa, Hiroshi ^a   Kashiwagi, Atsunori ^a   Kikkawa, Ryuichi ^a  

^a SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

Author keywords

Eruptive xanthoma; Familial; Hyperlipidemia; Tuberous xanthoma; Sitosterolemia

Indexed keywords

BILE ACID; CAMPESTEROL; CHOLESTANOL; CHOLESTEROL; LIPOPROTEIN; PHYTOSTEROL; RESIN; SITOSTEROL; TRIACYLGLYCEROL;

ARTICLE; CASE REPORT; CHILD; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; DIET THERAPY; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY; FEMALE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN TISSUE; SIBLING; STEROL ANALYSIS; XANTHOMATOSIS;

EID: 8244231921     PISSN: 09188959     EISSN: None     Source Type: Journal    
DOI: 10.1507/endocrj.44.59     Document Type: Article

References (15)

1. Björkhem I, Boberg KM (1995) Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Basis of Inherited Disease. 7th ed, McGraw-Hill, New York: 2073-2099.
2. Hatanaka I, Yasuda H, Hidaka H, Harada N, Kobayashi M, Okabe H, Matsumoto K, Hukuda S, Shigeta Y (1990) Spinal cord compression with paraplegia in xanthomatosis due to normocholesterolemic sitosterolemia. Ann Neurol 28: 390-393.
3. Hidaka H, Yasuda H, Kobayashi M, Hatanaka I, Takahashi M, Matsumoto K, Itoh R, Okabe H, Kikkawa R, Shigeta Y (1992) Familial spinal xanthomatosis with sitosterolemia. Intern Med 31: 1038-1042.
4. Kasama T, Byun D, Seyama Y (1987) Quantitative analysis of sterols in serum by high-performance liquid chromatography. Application to the biochemical diagnosis of cerebrotendinous xanthomatosis. J Chromatogr 400: 241-246.
5. Hidaka H, Kojima H, Nakajima Y, Aoki T, Nakamura T, Kawabata T, Nakano T, Harano Y, Shigeta Y (1990) Apolipoprotein B-48 analysis by high-performance liquid chromatography in VLDL: A sensitive and rapid method. Clin Chim Acta 189: 287-296.
6. Bhattacharyya AK, Connor WE (1974) Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest 53: 1033-1043.
7. Goldstein J, Hobbs HH, Brown M (1995) Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Basis of Inherited Disease. 7th ed, McGraw-Hill, New York: 1981-2030.
8. Salen G, Shefer S, Nguyen L, Ness GC, Tint GS, Shore V (1992) Sitosterolemia. J Lipid Res 33: 945-955.
9. Low LC, Lin HJ, Lau KS, Kung AW, Yeung CY (1991) Phytosterolemia and pseudohomozygous type II hypercholesterolemia in two Chinese patients. J Pediatr 118: 746-749.
10. Grahlke BK (1991) Xanthomas of the Achilles tendon as the cardinal symptom of sitosterolemia. Dtsch Med Wockenschr 116: 335-338.
11. Watts GF, Mitchell WD (1992) Clinical and metabolic findings in a patient with phytosterolaemia. Ann Clin Biochem 29: 231-236.
12. Salen G, Shefer S, Berginer V (1983) Familial diseases with storage of sterols other than cholesterol. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS(eds) The Metabolic Basis of Inherited Disease. 5th ed, McGraw-Hill, New York: 724-730.
13. Brunzell JD (1995) Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Basis of Inherited Disease. 7th ed, McGraw-Hill, New York; 1913-1932.
14. Belamarich PF, Deckelbaum RJ, Starc TJ, Dobrin BE, Tint GS, Salen G (1990) Response to diet and cholestyramine in a patient with sitosterolemia. Pediatrics 86: 977-981.
15. Hidaka H, Nakamura T, Aoki T, Kojima H, Nakajima Y, Kosugi K, Hatanaka I, Harada M, Kobayashi M, Tamura A, Fujii T, Shigeta Y (1990) Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis. J Lipid Res 31: 881-888.