Creatine metabolism in combined methylmalonic aciduria and homocystinuria
Methylation is an important aspect of many fundamental biological processes including creatine biosynthesis. We studied five patients with an inborn error of cobalamin metabolism to characterize the relation between homocysteine and creatine metabolism. Plasma guanidinoacetate concentrations were in...
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| Veröffentlicht in: | Annals of neurology 2005-04, Vol.57 (4), p.557-560 |
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| container_title | Annals of neurology |
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| creator | Bodamer, Olaf A. Sahoo, Trilochan Beaudet, Arthur L. O'Brien, William E. Bottiglieri, Teodoro Stöckler-Ipsiroglu, Sylvia Wagner, Conrad Scaglia, Fernando |
| description | Methylation is an important aspect of many fundamental biological processes including creatine biosynthesis. We studied five patients with an inborn error of cobalamin metabolism to characterize the relation between homocysteine and creatine metabolism. Plasma guanidinoacetate concentrations were increased, 14.9 ± 4.8μmol/L (p < 0.0001), whereas plasma creatine concentrations were in the low reference range, 43.8 ± 20.7μmol/L (p = not significant). Individuals with combined methylmalonic aciduria and homocystinuria have a functional impairment of the creatine synthetic pathway probably secondary to a relative depletion of labile methyl groups. The neurotoxic effects of guanidinoacetate may be partly responsible for the observed neurological phenotype. Ann Neurol 2005;57:557–560 |
| doi_str_mv | 10.1002/ana.20419 |
| format | Article |
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We studied five patients with an inborn error of cobalamin metabolism to characterize the relation between homocysteine and creatine metabolism. Plasma guanidinoacetate concentrations were increased, 14.9 ± 4.8μmol/L (p < 0.0001), whereas plasma creatine concentrations were in the low reference range, 43.8 ± 20.7μmol/L (p = not significant). Individuals with combined methylmalonic aciduria and homocystinuria have a functional impairment of the creatine synthetic pathway probably secondary to a relative depletion of labile methyl groups. The neurotoxic effects of guanidinoacetate may be partly responsible for the observed neurological phenotype. 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Miscellaneous ; Neurology ; Vitamin B 12 - metabolism</subject><ispartof>Annals of neurology, 2005-04, Vol.57 (4), p.557-560</ispartof><rights>Copyright © 2005 American Neurological Association</rights><rights>2005 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4229-df7d74df3c576d25855352f43412107673df9def36b0bf53fff715f8c1b95dc43</citedby><cites>FETCH-LOGICAL-c4229-df7d74df3c576d25855352f43412107673df9def36b0bf53fff715f8c1b95dc43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fana.20419$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fana.20419$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16735789$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15786446$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bodamer, Olaf A.</creatorcontrib><creatorcontrib>Sahoo, Trilochan</creatorcontrib><creatorcontrib>Beaudet, Arthur L.</creatorcontrib><creatorcontrib>O'Brien, William E.</creatorcontrib><creatorcontrib>Bottiglieri, Teodoro</creatorcontrib><creatorcontrib>Stöckler-Ipsiroglu, Sylvia</creatorcontrib><creatorcontrib>Wagner, Conrad</creatorcontrib><creatorcontrib>Scaglia, Fernando</creatorcontrib><title>Creatine metabolism in combined methylmalonic aciduria and homocystinuria</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>Methylation is an important aspect of many fundamental biological processes including creatine biosynthesis. We studied five patients with an inborn error of cobalamin metabolism to characterize the relation between homocysteine and creatine metabolism. Plasma guanidinoacetate concentrations were increased, 14.9 ± 4.8μmol/L (p < 0.0001), whereas plasma creatine concentrations were in the low reference range, 43.8 ± 20.7μmol/L (p = not significant). Individuals with combined methylmalonic aciduria and homocystinuria have a functional impairment of the creatine synthetic pathway probably secondary to a relative depletion of labile methyl groups. The neurotoxic effects of guanidinoacetate may be partly responsible for the observed neurological phenotype. Ann Neurol 2005;57:557–560</description><subject>Adult</subject><subject>Amino Acid Metabolism, Inborn Errors - metabolism</subject><subject>Aminoacid disorders</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Creatine - metabolism</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>Glycine - analogs & derivatives</subject><subject>Glycine - analysis</subject><subject>Homocysteine - metabolism</subject><subject>Homocystinuria - metabolism</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Methionine - metabolism</subject><subject>Methylmalonic Acid - blood</subject><subject>Methylmalonic Acid - urine</subject><subject>Nervous system involvement in other diseases. Miscellaneous</subject><subject>Neurology</subject><subject>Vitamin B 12 - metabolism</subject><issn>0364-5134</issn><issn>1531-8249</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kEtLQzEUhIMotlYX_gG5GwUXV_NOsyzFJ6UiKLoLuXnQ6H1o0qL996a26srVgeGbmcMAcIjgGYIQn-tWn2FIkdwCfcQIKoeYym3Qh4TTkiFCe2AvpRcIoeQI7oIeYmLIKeV9cDOOTs9D64rGzXXV1SE1RWgL0zVVVu1Kni3rRtddG0yhTbCLGHShW1vMuqYzy5TdK2kf7HhdJ3ewuQPweHnxML4uJ3dXN-PRpDQUY1laL6yg1hPDBLeYDRkjDHtKKMIICi6I9dI6T3gFK8-I914g5ocGVZJZQ8kAnKxz32L3vnBprpqQjKtr3bpukRQSBEPJZAZP16CJXUrRefUWQ6PjUiGoVrupvJv63i2zR5vQRdU4-0duhsrA8QbQyejaR92akP64_HdGV0Hna-4j1G75f6MaTUc_1eXaEdLcff46dHxVOVQw9TS9Us_3D3x6z2-VJF-c1JN2</recordid><startdate>200504</startdate><enddate>200504</enddate><creator>Bodamer, Olaf A.</creator><creator>Sahoo, Trilochan</creator><creator>Beaudet, Arthur L.</creator><creator>O'Brien, William E.</creator><creator>Bottiglieri, Teodoro</creator><creator>Stöckler-Ipsiroglu, Sylvia</creator><creator>Wagner, Conrad</creator><creator>Scaglia, Fernando</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Willey-Liss</general><scope>BSCLL</scope><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>7TK</scope></search><sort><creationdate>200504</creationdate><title>Creatine metabolism in combined methylmalonic aciduria and homocystinuria</title><author>Bodamer, Olaf A. ; Sahoo, Trilochan ; Beaudet, Arthur L. ; O'Brien, William E. ; Bottiglieri, Teodoro ; Stöckler-Ipsiroglu, Sylvia ; Wagner, Conrad ; Scaglia, Fernando</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4229-df7d74df3c576d25855352f43412107673df9def36b0bf53fff715f8c1b95dc43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Adult</topic><topic>Amino Acid Metabolism, Inborn Errors - metabolism</topic><topic>Aminoacid disorders</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Creatine - metabolism</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>Glycine - analogs & derivatives</topic><topic>Glycine - analysis</topic><topic>Homocysteine - metabolism</topic><topic>Homocystinuria - metabolism</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Methionine - metabolism</topic><topic>Methylmalonic Acid - blood</topic><topic>Methylmalonic Acid - urine</topic><topic>Nervous system involvement in other diseases. Miscellaneous</topic><topic>Neurology</topic><topic>Vitamin B 12 - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bodamer, Olaf A.</creatorcontrib><creatorcontrib>Sahoo, Trilochan</creatorcontrib><creatorcontrib>Beaudet, Arthur L.</creatorcontrib><creatorcontrib>O'Brien, William E.</creatorcontrib><creatorcontrib>Bottiglieri, Teodoro</creatorcontrib><creatorcontrib>Stöckler-Ipsiroglu, Sylvia</creatorcontrib><creatorcontrib>Wagner, Conrad</creatorcontrib><creatorcontrib>Scaglia, Fernando</creatorcontrib><collection>Istex</collection><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>Neurosciences Abstracts</collection><jtitle>Annals of neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bodamer, Olaf A.</au><au>Sahoo, Trilochan</au><au>Beaudet, Arthur L.</au><au>O'Brien, William E.</au><au>Bottiglieri, Teodoro</au><au>Stöckler-Ipsiroglu, Sylvia</au><au>Wagner, Conrad</au><au>Scaglia, Fernando</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Creatine metabolism in combined methylmalonic aciduria and homocystinuria</atitle><jtitle>Annals of neurology</jtitle><addtitle>Ann Neurol</addtitle><date>2005-04</date><risdate>2005</risdate><volume>57</volume><issue>4</issue><spage>557</spage><epage>560</epage><pages>557-560</pages><issn>0364-5134</issn><eissn>1531-8249</eissn><coden>ANNED3</coden><abstract>Methylation is an important aspect of many fundamental biological processes including creatine biosynthesis. We studied five patients with an inborn error of cobalamin metabolism to characterize the relation between homocysteine and creatine metabolism. Plasma guanidinoacetate concentrations were increased, 14.9 ± 4.8μmol/L (p < 0.0001), whereas plasma creatine concentrations were in the low reference range, 43.8 ± 20.7μmol/L (p = not significant). Individuals with combined methylmalonic aciduria and homocystinuria have a functional impairment of the creatine synthetic pathway probably secondary to a relative depletion of labile methyl groups. The neurotoxic effects of guanidinoacetate may be partly responsible for the observed neurological phenotype. Ann Neurol 2005;57:557–560</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>15786446</pmid><doi>10.1002/ana.20419</doi><tpages>4</tpages></addata></record> |
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| subjects | Adult Amino Acid Metabolism, Inborn Errors - metabolism Aminoacid disorders Biological and medical sciences Child Child, Preschool Creatine - metabolism Errors of metabolism Female Glycine - analogs & derivatives Glycine - analysis Homocysteine - metabolism Homocystinuria - metabolism Humans Male Medical sciences Metabolic diseases Methionine - metabolism Methylmalonic Acid - blood Methylmalonic Acid - urine Nervous system involvement in other diseases. Miscellaneous Neurology Vitamin B 12 - metabolism |
| title | Creatine metabolism in combined methylmalonic aciduria and homocystinuria |
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