In:
Journal of Inherited Metabolic Disease, Wiley, Vol. 14, No. 1 ( 1991-01), p. 96-104
Abstract:
The metabolic basis of X‐linked ichthyosis is a deficiency of steroid sulphatase, a microsomal enzyme which removes sulphate groups from sulphated steroids. We report on a carefully controlled group of 15 patients with recessive X‐linked ichthyosis, selected in a narrow age range (22–33 years), in whom, through the use of gas chromatographic analysis and conventional radioimmunoassay, we have measured not only elevated serum cholesterol sulphate levels but also significantly elevated serum dehydroepiandrosterone sulphate levels. The latter finding has been controversial in previous reports. We believe that the radioimmunoassay procedure generally used should be held responsible for such controversy since it often gives rise to false positive and/or false negative values. Gas chromatography, although more exacting, appears to be far more reliable for the assessment of elevated serum dehydroepiandrosterone.
Type of Medium:
Online Resource
ISSN:
0141-8955
,
1573-2665
Language:
English
Publisher:
Wiley
Publication Date:
1991
detail.hit.zdb_id:
2006875-X
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