Increased levels of DHEAS in serum of patients with X‐linked ichthyosis
Summary 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 year...
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| Veröffentlicht in: | Journal of inherited metabolic disease 1991-01, Vol.14 (1), p.96-104 |
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| container_title | Journal of inherited metabolic disease |
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| creator | Milone, A. Delfino, M. Piccirillo, A. Illiano, G. M. P. Aloj, S. M. Bifulco, M. |
| description | Summary
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. |
| doi_str_mv | 10.1007/BF01804396 |
| format | Article |
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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.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/BF01804396</identifier><identifier>PMID: 1830629</identifier><identifier>CODEN: JIMDDP</identifier><language>eng</language><publisher>Dordrecht: Kluwer Academic Publishers</publisher><subject>Acetylation ; Adult ; Aging - metabolism ; Arylsulfatases - deficiency ; Biological and medical sciences ; Cholesterol - blood ; Chromatography, Gas ; Dehydroepiandrosterone - analogs & derivatives ; Dehydroepiandrosterone - blood ; Dehydroepiandrosterone Sulfate ; Dermatology ; Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue ; Humans ; Ichthyosis, X-Linked - blood ; Male ; Medical sciences ; Radioimmunoassay ; Steroids - blood ; Steryl-Sulfatase</subject><ispartof>Journal of inherited metabolic disease, 1991-01, Vol.14 (1), p.96-104</ispartof><rights>1991 SSIEM</rights><rights>1991 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3536-9f0c4127a52a826228d057e102a0c5e554c86d3f24110b716e50e15dc4e692bd3</citedby><cites>FETCH-LOGICAL-c3536-9f0c4127a52a826228d057e102a0c5e554c86d3f24110b716e50e15dc4e692bd3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,4022,27922,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19816248$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1830629$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Milone, A.</creatorcontrib><creatorcontrib>Delfino, M.</creatorcontrib><creatorcontrib>Piccirillo, A.</creatorcontrib><creatorcontrib>Illiano, G. M. P.</creatorcontrib><creatorcontrib>Aloj, S. M.</creatorcontrib><creatorcontrib>Bifulco, M.</creatorcontrib><title>Increased levels of DHEAS in serum of patients with X‐linked ichthyosis</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>Summary
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.</description><subject>Acetylation</subject><subject>Adult</subject><subject>Aging - metabolism</subject><subject>Arylsulfatases - deficiency</subject><subject>Biological and medical sciences</subject><subject>Cholesterol - blood</subject><subject>Chromatography, Gas</subject><subject>Dehydroepiandrosterone - analogs & derivatives</subject><subject>Dehydroepiandrosterone - blood</subject><subject>Dehydroepiandrosterone Sulfate</subject><subject>Dermatology</subject><subject>Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue</subject><subject>Humans</subject><subject>Ichthyosis, X-Linked - blood</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Radioimmunoassay</subject><subject>Steroids - blood</subject><subject>Steryl-Sulfatase</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1991</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kc1Kw0AUhQdRaq1u3AvZ6EKI3plkJpNl7Y-NVFyo4C5MJzd0ND81k1i68xF8Rp_ElBS6c3Xhnu-eC-cQck7hhgIEt3dToBJ8LxQHpE954LlMCH5I-kB96sqQ82NyYu07AISS8x7pUemBYGGfRFGhK1QWEyfDL8ysU6bOeDYZPjumcCxWTb7drFRtsKitszb10nn7_f7JTPHRHhm9rJeb0hp7So5SlVk8280BeZ1OXkYzd_50H42Gc1d73BNumIL2KQsUZ0oywZhMgAdIgSnQHDn3tRSJlzKfUlgEVCAHpDzRPoqQLRJvQK4631VVfjZo6zg3VmOWqQLLxsYSAurzMGjB6w7UVWlthWm8qkyuqk1MId7mFu9za-GLnWuzyDHZo11QrX6505XVKksrVWhj91goqWC-bDnouLXJcPPPx_ghehy3fQjvDwUQgXk</recordid><startdate>199101</startdate><enddate>199101</enddate><creator>Milone, A.</creator><creator>Delfino, M.</creator><creator>Piccirillo, A.</creator><creator>Illiano, G. M. P.</creator><creator>Aloj, S. M.</creator><creator>Bifulco, M.</creator><general>Kluwer Academic Publishers</general><general>Springer</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>199101</creationdate><title>Increased levels of DHEAS in serum of patients with X‐linked ichthyosis</title><author>Milone, A. ; Delfino, M. ; Piccirillo, A. ; Illiano, G. M. P. ; Aloj, S. M. ; Bifulco, M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3536-9f0c4127a52a826228d057e102a0c5e554c86d3f24110b716e50e15dc4e692bd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1991</creationdate><topic>Acetylation</topic><topic>Adult</topic><topic>Aging - metabolism</topic><topic>Arylsulfatases - deficiency</topic><topic>Biological and medical sciences</topic><topic>Cholesterol - blood</topic><topic>Chromatography, Gas</topic><topic>Dehydroepiandrosterone - analogs & derivatives</topic><topic>Dehydroepiandrosterone - blood</topic><topic>Dehydroepiandrosterone Sulfate</topic><topic>Dermatology</topic><topic>Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue</topic><topic>Humans</topic><topic>Ichthyosis, X-Linked - blood</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Radioimmunoassay</topic><topic>Steroids - blood</topic><topic>Steryl-Sulfatase</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Milone, A.</creatorcontrib><creatorcontrib>Delfino, M.</creatorcontrib><creatorcontrib>Piccirillo, A.</creatorcontrib><creatorcontrib>Illiano, G. M. P.</creatorcontrib><creatorcontrib>Aloj, S. M.</creatorcontrib><creatorcontrib>Bifulco, M.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of inherited metabolic disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Milone, A.</au><au>Delfino, M.</au><au>Piccirillo, A.</au><au>Illiano, G. M. P.</au><au>Aloj, S. M.</au><au>Bifulco, M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Increased levels of DHEAS in serum of patients with X‐linked ichthyosis</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>1991-01</date><risdate>1991</risdate><volume>14</volume><issue>1</issue><spage>96</spage><epage>104</epage><pages>96-104</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><abstract>Summary
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.</abstract><cop>Dordrecht</cop><pub>Kluwer Academic Publishers</pub><pmid>1830629</pmid><doi>10.1007/BF01804396</doi><tpages>9</tpages></addata></record> |
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| identifier | ISSN: 0141-8955 |
| ispartof | Journal of inherited metabolic disease, 1991-01, Vol.14 (1), p.96-104 |
| issn | 0141-8955 1573-2665 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Acetylation Adult Aging - metabolism Arylsulfatases - deficiency Biological and medical sciences Cholesterol - blood Chromatography, Gas Dehydroepiandrosterone - analogs & derivatives Dehydroepiandrosterone - blood Dehydroepiandrosterone Sulfate Dermatology Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue Humans Ichthyosis, X-Linked - blood Male Medical sciences Radioimmunoassay Steroids - blood Steryl-Sulfatase |
| title | Increased levels of DHEAS in serum of patients with X‐linked ichthyosis |
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