Homocystinuria: Studies on cystathionine β‐synthase,S‐adenosylmethionine synthetase and cystathionase activities in skin fibroblasts
Cystathionine β‐synthase,S‐adenosylmethionine synthetase and cystathionase activities were assayed in skin fibroblast cultures from five pyridoxine responsive and five pyridoxine non‐responsive homocystinurics, six obligate heterozygotes for homocystinuria and ten normal control subjects. The specif...
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| Veröffentlicht in: | Journal of inherited metabolic disease 1981-12, Vol.4 (1), p.3-6 |
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| creator | Bittles, A. H. Carson, N. A. J. |
| description | Cystathionine β‐synthase,S‐adenosylmethionine synthetase and cystathionase activities were assayed in skin fibroblast cultures from five pyridoxine responsive and five pyridoxine non‐responsive homocystinurics, six obligate heterozygotes for homocystinuria and ten normal control subjects. The specific deficiency in cystathionine β‐synthase activity was confirmed in nine of the homocystinuric cultures. However, in one pyridoxine responsive case the level of cystathionine β‐synthase activity was found to be comparable with those of the heterozygotes. A negative correlation appeared to exist between the level of residual enzyme activity and the pre‐treatment severity of clinical symptoms. |
| doi_str_mv | 10.1007/BF02263573 |
| format | Article |
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H. ; Carson, N. A. J.</creator><creatorcontrib>Bittles, A. H. ; Carson, N. A. J.</creatorcontrib><description>Cystathionine β‐synthase,S‐adenosylmethionine synthetase and cystathionase activities were assayed in skin fibroblast cultures from five pyridoxine responsive and five pyridoxine non‐responsive homocystinurics, six obligate heterozygotes for homocystinuria and ten normal control subjects. The specific deficiency in cystathionine β‐synthase activity was confirmed in nine of the homocystinuric cultures. However, in one pyridoxine responsive case the level of cystathionine β‐synthase activity was found to be comparable with those of the heterozygotes. A negative correlation appeared to exist between the level of residual enzyme activity and the pre‐treatment severity of clinical symptoms.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/BF02263573</identifier><identifier>PMID: 6785521</identifier><language>eng</language><publisher>Dordrecht: Kluwer Academic Publishers</publisher><subject>Cells, Cultured ; Cystathionine beta-Synthase - metabolism ; Cystathionine gamma-Lyase - metabolism ; Fibroblasts - drug effects ; Fibroblasts - enzymology ; Genetic Carrier Screening ; Homocystinuria - enzymology ; Homozygote ; Humans ; Hydro-Lyases - metabolism ; Lyases - metabolism ; Methionine Adenosyltransferase - metabolism ; Pyridoxine - pharmacology ; Reference Values ; Skin - enzymology ; Transferases - metabolism</subject><ispartof>Journal of inherited metabolic disease, 1981-12, Vol.4 (1), p.3-6</ispartof><rights>1981 SSIEM</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3233-34b1a7a056b8153ed9e073d04f11205c787317dea18b0618a4a04e62b94605233</citedby><cites>FETCH-LOGICAL-c3233-34b1a7a056b8153ed9e073d04f11205c787317dea18b0618a4a04e62b94605233</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/6785521$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bittles, A. H.</creatorcontrib><creatorcontrib>Carson, N. A. J.</creatorcontrib><title>Homocystinuria: Studies on cystathionine β‐synthase,S‐adenosylmethionine synthetase and cystathionase activities in skin fibroblasts</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>Cystathionine β‐synthase,S‐adenosylmethionine synthetase and cystathionase activities were assayed in skin fibroblast cultures from five pyridoxine responsive and five pyridoxine non‐responsive homocystinurics, six obligate heterozygotes for homocystinuria and ten normal control subjects. The specific deficiency in cystathionine β‐synthase activity was confirmed in nine of the homocystinuric cultures. However, in one pyridoxine responsive case the level of cystathionine β‐synthase activity was found to be comparable with those of the heterozygotes. A negative correlation appeared to exist between the level of residual enzyme activity and the pre‐treatment severity of clinical symptoms.</description><subject>Cells, Cultured</subject><subject>Cystathionine beta-Synthase - metabolism</subject><subject>Cystathionine gamma-Lyase - metabolism</subject><subject>Fibroblasts - drug effects</subject><subject>Fibroblasts - enzymology</subject><subject>Genetic Carrier Screening</subject><subject>Homocystinuria - enzymology</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Hydro-Lyases - metabolism</subject><subject>Lyases - metabolism</subject><subject>Methionine Adenosyltransferase - metabolism</subject><subject>Pyridoxine - pharmacology</subject><subject>Reference Values</subject><subject>Skin - enzymology</subject><subject>Transferases - metabolism</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1981</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kc1O3DAURq2KCqZDN90jZcWiIuU6ju2EHYXCDBrEArqOnOSOxm1iQ-yAsuu2O56FB-EheBI8P6KsuvGV73d0Ft8l5AuFbxRAHn4_gyQRjEv2gYxoGHEiBN8iI6ApjbOc8x3yyblfAJBnnG-TbSHDTOiI_J3Y1laD89r0nVZH0bXva40usiZarpVfaGu0wej56eXPoxuMXyiHB9fho2o01g1Ni2_QKkcfiEiZ-p1htam8vtd-adcmcr_DM9dlZ8tGOe92yce5ahx-3swx-Xn24-ZkEs-uzqcnx7O4YgljMUtLqqQCLsqMcoZ1jiBZDemc0gR4JTPJqKxR0awEQTOVKkhRJGWeCuDBMCb7a-9tZ-96dL5otauwaZRB27tCcpHmVOYB_LoGq8461-G8uO10q7qhoFAsey_-9R7gvY21L1us39BN0SGHdf6gGxz-Yyouppen4VCMvQJWiZDm</recordid><startdate>198112</startdate><enddate>198112</enddate><creator>Bittles, A. H.</creator><creator>Carson, N. A. J.</creator><general>Kluwer Academic Publishers</general><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>198112</creationdate><title>Homocystinuria: Studies on cystathionine β‐synthase,S‐adenosylmethionine synthetase and cystathionase activities in skin fibroblasts</title><author>Bittles, A. H. ; Carson, N. A. J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3233-34b1a7a056b8153ed9e073d04f11205c787317dea18b0618a4a04e62b94605233</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1981</creationdate><topic>Cells, Cultured</topic><topic>Cystathionine beta-Synthase - metabolism</topic><topic>Cystathionine gamma-Lyase - metabolism</topic><topic>Fibroblasts - drug effects</topic><topic>Fibroblasts - enzymology</topic><topic>Genetic Carrier Screening</topic><topic>Homocystinuria - enzymology</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Hydro-Lyases - metabolism</topic><topic>Lyases - metabolism</topic><topic>Methionine Adenosyltransferase - metabolism</topic><topic>Pyridoxine - pharmacology</topic><topic>Reference Values</topic><topic>Skin - enzymology</topic><topic>Transferases - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bittles, A. H.</creatorcontrib><creatorcontrib>Carson, N. A. J.</creatorcontrib><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>Bittles, A. H.</au><au>Carson, N. A. J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Homocystinuria: Studies on cystathionine β‐synthase,S‐adenosylmethionine synthetase and cystathionase activities in skin fibroblasts</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>1981-12</date><risdate>1981</risdate><volume>4</volume><issue>1</issue><spage>3</spage><epage>6</epage><pages>3-6</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><abstract>Cystathionine β‐synthase,S‐adenosylmethionine synthetase and cystathionase activities were assayed in skin fibroblast cultures from five pyridoxine responsive and five pyridoxine non‐responsive homocystinurics, six obligate heterozygotes for homocystinuria and ten normal control subjects. The specific deficiency in cystathionine β‐synthase activity was confirmed in nine of the homocystinuric cultures. However, in one pyridoxine responsive case the level of cystathionine β‐synthase activity was found to be comparable with those of the heterozygotes. A negative correlation appeared to exist between the level of residual enzyme activity and the pre‐treatment severity of clinical symptoms.</abstract><cop>Dordrecht</cop><pub>Kluwer Academic Publishers</pub><pmid>6785521</pmid><doi>10.1007/BF02263573</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0141-8955 |
| ispartof | Journal of inherited metabolic disease, 1981-12, Vol.4 (1), p.3-6 |
| issn | 0141-8955 1573-2665 |
| language | eng |
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| subjects | Cells, Cultured Cystathionine beta-Synthase - metabolism Cystathionine gamma-Lyase - metabolism Fibroblasts - drug effects Fibroblasts - enzymology Genetic Carrier Screening Homocystinuria - enzymology Homozygote Humans Hydro-Lyases - metabolism Lyases - metabolism Methionine Adenosyltransferase - metabolism Pyridoxine - pharmacology Reference Values Skin - enzymology Transferases - metabolism |
| title | Homocystinuria: Studies on cystathionine β‐synthase,S‐adenosylmethionine synthetase and cystathionase activities in skin fibroblasts |
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