Accumulation of oxygenated steryl esters in Wolman's disease.
نویسندگان
چکیده
7alpha- and 7beta-hydroxycholesteryl esters, 7-ketocholesteryl esters, and 5,6alpha- and 5,6beta-epoxycholesteryl esters have been identified in tissues of patients affected by Wolman's disease. Their structural identities were determined by mass spectroscopy and nuclear magnetic resonance spectroscopy and confirmed by chemical synthesis. It is postulated that cholesteryl ester hydrolase deficiency in Wolman's disease might lead to accumulation of oxygenated steryl esters in vivo and impairment of bile acid formation.
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گزارش بیماری وولمن در یک شیرخوار
Wolman's disease is a rare fatal autosomal recessive hereditary disorder caused by a chromosomal abnormality called "lysosomal acid lipase enzyme" that leads to accumulation of triglycerides and cholesterol esters in different body tissues of neonates. There is another form of the disorder called Cholesterol Ester Storage Disease, which is a benign adult form of it. Diagnosis is based on clinic...
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ورودعنوان ژورنال:
- Journal of lipid research
دوره 16 1 شماره
صفحات -
تاریخ انتشار 1975