Methionine transamination in patients with homocystinuria due to cystathionine β-synthase deficiency
To assess the ability of patients with homocystinuria due to cystathionine β-synthase (CBS) deficiency to perform the reactions of the methionine transamination pathway, the concentrations of the products of this pathway were measured in plasma and urine. The results clearly demonstrate that CBS-def...
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| Veröffentlicht in: | Metabolism, clinical and experimental clinical and experimental, 2000-08, Vol.49 (8), p.1071-1077 |
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| container_title | Metabolism, clinical and experimental |
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| creator | Tangerman, Albert Wilcken, Bridget Levy, Harvey L. Boers, Godfried H.J. Mudd, S.Harvey |
| description | To assess the ability of patients with homocystinuria due to cystathionine β-synthase (CBS) deficiency to perform the reactions of the methionine transamination pathway, the concentrations of the products of this pathway were measured in plasma and urine. The results clearly demonstrate that CBS-deficient patients develop elevations of these metabolites once a threshold near 350 μmol/L for the concurrent plasma methionine concentration is exceeded. The absence of elevated methionine transamination products previously reported among 16 CBS-deficient B6-responsive patients may now be attributed to the fact that in those patients the plasma methionine concentrations were below this threshold. The observed elevations of transamination products were similar to those observed among patients with isolated hypermethioninemia. Plasma homocyst(e)ine did not exert a consistent effect on transamination metabolites, and betaine appeared to effect transamination chiefly by its tendency to elevate methionine. Even during betaine administration, the transamination pathway does not appear to be a quantitatively major route for the disposal of methionine. |
| doi_str_mv | 10.1053/meta.2000.7709 |
| format | Article |
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The results clearly demonstrate that CBS-deficient patients develop elevations of these metabolites once a threshold near 350 μmol/L for the concurrent plasma methionine concentration is exceeded. The absence of elevated methionine transamination products previously reported among 16 CBS-deficient B6-responsive patients may now be attributed to the fact that in those patients the plasma methionine concentrations were below this threshold. The observed elevations of transamination products were similar to those observed among patients with isolated hypermethioninemia. Plasma homocyst(e)ine did not exert a consistent effect on transamination metabolites, and betaine appeared to effect transamination chiefly by its tendency to elevate methionine. 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The results clearly demonstrate that CBS-deficient patients develop elevations of these metabolites once a threshold near 350 μmol/L for the concurrent plasma methionine concentration is exceeded. The absence of elevated methionine transamination products previously reported among 16 CBS-deficient B6-responsive patients may now be attributed to the fact that in those patients the plasma methionine concentrations were below this threshold. The observed elevations of transamination products were similar to those observed among patients with isolated hypermethioninemia. Plasma homocyst(e)ine did not exert a consistent effect on transamination metabolites, and betaine appeared to effect transamination chiefly by its tendency to elevate methionine. Even during betaine administration, the transamination pathway does not appear to be a quantitatively major route for the disposal of methionine.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Amination - drug effects</subject><subject>Aminoacid disorders</subject><subject>Betaine - therapeutic use</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cystathionine beta-Synthase - deficiency</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>Homocysteine - blood</subject><subject>Homocystinuria - blood</subject><subject>Homocystinuria - drug therapy</subject><subject>Homocystinuria - urine</subject><subject>Humans</subject><subject>Infant</subject><subject>Lipotropic Agents - therapeutic use</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Methionine - blood</subject><subject>Methionine - urine</subject><subject>Middle Aged</subject><subject>Transaminases - metabolism</subject><issn>0026-0495</issn><issn>1532-8600</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kE1v1DAQhi0EotuWK0eUA-otyzgfdnKsKiiVWvVCz9bEHmuNNs7Wdor2b_WH9DfhsKvChdOMRs_7avQw9pHDmkNbfxkp4boCgLWU0L9hK97WVdkJgLdsBVCJEpq-PWGnMf7MlJSdeM9OOPRtA1W3YnRHaeMm7zwVKaCPODqPKV8K54td3sinWPxyaVNspnHS-5icn4PDwsw5MhXLBV87Xp7LuPdpg5EKQ9bpnNf7c_bO4jbSh-M8Yw_fvv64-l7e3l_fXF3elroWfSr1YCsOvJNYWd40BLauLQrLNVoxGBJom8HUdpDALQ6iAdFk0HAue-JmqM_YxaF3F6bHmWJSo4uatlv0NM1RSS5b2UOXwfUB1GGKMZBVu-BGDHvFQS1i1SJWLWLVIjYHPh2b52Ek8w9-MJmBz0cAo8atzS61i3-5RrRVv2DdAaOs4clRUPGPIjIukE7KTO5_L_wGfB6YRA</recordid><startdate>20000801</startdate><enddate>20000801</enddate><creator>Tangerman, Albert</creator><creator>Wilcken, Bridget</creator><creator>Levy, Harvey L.</creator><creator>Boers, Godfried H.J.</creator><creator>Mudd, S.Harvey</creator><general>Elsevier Inc</general><general>Elsevier</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>20000801</creationdate><title>Methionine transamination in patients with homocystinuria due to cystathionine β-synthase deficiency</title><author>Tangerman, Albert ; Wilcken, Bridget ; Levy, Harvey L. ; Boers, Godfried H.J. ; Mudd, S.Harvey</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c369t-cbf210187a2f144e0f33fa6f1caf6bde6af4bd3fb701fab64064f14d1179e1db3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Amination - drug effects</topic><topic>Aminoacid disorders</topic><topic>Betaine - therapeutic use</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Cystathionine beta-Synthase - deficiency</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>Homocysteine - blood</topic><topic>Homocystinuria - blood</topic><topic>Homocystinuria - drug therapy</topic><topic>Homocystinuria - urine</topic><topic>Humans</topic><topic>Infant</topic><topic>Lipotropic Agents - therapeutic use</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Methionine - blood</topic><topic>Methionine - urine</topic><topic>Middle Aged</topic><topic>Transaminases - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tangerman, Albert</creatorcontrib><creatorcontrib>Wilcken, Bridget</creatorcontrib><creatorcontrib>Levy, Harvey L.</creatorcontrib><creatorcontrib>Boers, Godfried H.J.</creatorcontrib><creatorcontrib>Mudd, S.Harvey</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>Metabolism, clinical and experimental</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tangerman, Albert</au><au>Wilcken, Bridget</au><au>Levy, Harvey L.</au><au>Boers, Godfried H.J.</au><au>Mudd, S.Harvey</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Methionine transamination in patients with homocystinuria due to cystathionine β-synthase deficiency</atitle><jtitle>Metabolism, clinical and experimental</jtitle><addtitle>Metabolism</addtitle><date>2000-08-01</date><risdate>2000</risdate><volume>49</volume><issue>8</issue><spage>1071</spage><epage>1077</epage><pages>1071-1077</pages><issn>0026-0495</issn><eissn>1532-8600</eissn><abstract>To assess the ability of patients with homocystinuria due to cystathionine β-synthase (CBS) deficiency to perform the reactions of the methionine transamination pathway, the concentrations of the products of this pathway were measured in plasma and urine. The results clearly demonstrate that CBS-deficient patients develop elevations of these metabolites once a threshold near 350 μmol/L for the concurrent plasma methionine concentration is exceeded. The absence of elevated methionine transamination products previously reported among 16 CBS-deficient B6-responsive patients may now be attributed to the fact that in those patients the plasma methionine concentrations were below this threshold. The observed elevations of transamination products were similar to those observed among patients with isolated hypermethioninemia. Plasma homocyst(e)ine did not exert a consistent effect on transamination metabolites, and betaine appeared to effect transamination chiefly by its tendency to elevate methionine. Even during betaine administration, the transamination pathway does not appear to be a quantitatively major route for the disposal of methionine.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>10954028</pmid><doi>10.1053/meta.2000.7709</doi><tpages>7</tpages></addata></record> |
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| subjects | Adolescent Adult Aged Amination - drug effects Aminoacid disorders Betaine - therapeutic use Biological and medical sciences Child Child, Preschool Cystathionine beta-Synthase - deficiency Errors of metabolism Female Homocysteine - blood Homocystinuria - blood Homocystinuria - drug therapy Homocystinuria - urine Humans Infant Lipotropic Agents - therapeutic use Male Medical sciences Metabolic diseases Methionine - blood Methionine - urine Middle Aged Transaminases - metabolism |
| title | Methionine transamination in patients with homocystinuria due to cystathionine β-synthase deficiency |
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