Identification of impaired cholesterol biosynthesis in a Japanese patient of Smith-Lemli-Opitz syndrome
Hasui, M.; Saito, C.; Kasama, T.; Taki, T.; Yachie, A.
No to Hattatsu 29(1): 61-66
1997
ISSN/ISBN: 0029-0831 PMID: 8986099 Document Number: 473396
We reported the decreased level of cholesterol as well as the elevated levels of 7- and 8- dehydrocholesterol in the serum and erythrocytes of a Japanese patient with Smith-Lemli-Opitz syndrome. These findings suggested that the detection of these precursors of cholesterol synthesis should become an important biochemical parameter for this syndrome in which clinical features are not always obvious.