Defect in Dimethylglycine Dehydrogenase, a New Inborn Error of Metabolism: NMR Spectroscopy Study
A38-year-old man presented with a history of fish odor (since age 5) and unusual muscle fatigue with increased serum creatine kinase. Our aim was to identify the metabolic error in this new condition. We used 1H NMR spectroscopy to study serum and urine from the patient. The concentration of N, N-di...
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| Veröffentlicht in: | Clinical chemistry (Baltimore, Md.) Md.), 1999-04, Vol.45 (4), p.459-464 |
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| container_title | Clinical chemistry (Baltimore, Md.) |
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| creator | Moolenaar, Sytske H Poggi-Bach, Jo Engelke, Udo F.H Corstiaensen, Jacqueline M.B Heerschap, Arend de Jong, Jan G.N Binzak, Barbara A Vockley, Jerry Wevers, Ron A |
| description | A38-year-old man presented with a history of fish odor (since age 5) and unusual muscle fatigue with increased serum creatine kinase. Our aim was to identify the metabolic error in this new condition.
We used 1H NMR spectroscopy to study serum and urine from the patient.
The concentration of N, N-dimethylglycine (DMG) was increased approximately 100-fold in the serum and approximately 20-fold in the urine. The presence of DMG as a storage product was confirmed by use of 13C NMR spectroscopy and gas chromatography-mass spectrometry. The high concentration of DMG was caused by a deficiency of the enzyme dimethylglycine dehydrogenase (DMGDH). A homozygous missense mutation was found in the DMGDH gene of the patient.
DMGDH deficiency must be added to the differential diagnosis of patients complaining of a fish odor. This deficiency is the first inborn error of metabolism discovered by use of in vitro 1H NMR spectroscopy of body fluids. |
| doi_str_mv | 10.1093/clinchem/45.4.459 |
| format | Article |
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We used 1H NMR spectroscopy to study serum and urine from the patient.
The concentration of N, N-dimethylglycine (DMG) was increased approximately 100-fold in the serum and approximately 20-fold in the urine. The presence of DMG as a storage product was confirmed by use of 13C NMR spectroscopy and gas chromatography-mass spectrometry. The high concentration of DMG was caused by a deficiency of the enzyme dimethylglycine dehydrogenase (DMGDH). A homozygous missense mutation was found in the DMGDH gene of the patient.
DMGDH deficiency must be added to the differential diagnosis of patients complaining of a fish odor. This deficiency is the first inborn error of metabolism discovered by use of in vitro 1H NMR spectroscopy of body fluids.</description><identifier>ISSN: 0009-9147</identifier><identifier>EISSN: 1530-8561</identifier><identifier>DOI: 10.1093/clinchem/45.4.459</identifier><identifier>PMID: 10102904</identifier><identifier>CODEN: CLCHAU</identifier><language>eng</language><publisher>Washington, DC: Am Assoc Clin Chem</publisher><subject>Adult ; Biological and medical sciences ; Dimethylglycine Dehydrogenase ; Gas Chromatography-Mass Spectrometry ; Humans ; Investigative techniques, diagnostic techniques (general aspects) ; Magnetic Resonance Spectroscopy ; Male ; Medical sciences ; Metabolic diseases ; Metabolism, Inborn Errors - blood ; Metabolism, Inborn Errors - enzymology ; Metabolism, Inborn Errors - physiopathology ; Metabolism, Inborn Errors - urine ; Mitochondrial Proteins ; Mutation, Missense ; Odorants ; Oxidoreductases, N-Demethylating - deficiency ; Oxidoreductases, N-Demethylating - genetics ; Oxidoreductases, N-Demethylating - urine ; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques ; Sarcosine - analogs & derivatives ; Sarcosine - urine</subject><ispartof>Clinical chemistry (Baltimore, Md.), 1999-04, Vol.45 (4), p.459-464</ispartof><rights>1999 INIST-CNRS</rights><rights>Copyright 1999 American Association for Clinical Chemistry</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c399t-54870b82b1466b5895554f08d0e836210d9d3dd71c08983d00256aa8fc983bef3</citedby><cites>FETCH-LOGICAL-c399t-54870b82b1466b5895554f08d0e836210d9d3dd71c08983d00256aa8fc983bef3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1756720$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10102904$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Moolenaar, Sytske H</creatorcontrib><creatorcontrib>Poggi-Bach, Jo</creatorcontrib><creatorcontrib>Engelke, Udo F.H</creatorcontrib><creatorcontrib>Corstiaensen, Jacqueline M.B</creatorcontrib><creatorcontrib>Heerschap, Arend</creatorcontrib><creatorcontrib>de Jong, Jan G.N</creatorcontrib><creatorcontrib>Binzak, Barbara A</creatorcontrib><creatorcontrib>Vockley, Jerry</creatorcontrib><creatorcontrib>Wevers, Ron A</creatorcontrib><title>Defect in Dimethylglycine Dehydrogenase, a New Inborn Error of Metabolism: NMR Spectroscopy Study</title><title>Clinical chemistry (Baltimore, Md.)</title><addtitle>Clin Chem</addtitle><description>A38-year-old man presented with a history of fish odor (since age 5) and unusual muscle fatigue with increased serum creatine kinase. Our aim was to identify the metabolic error in this new condition.
We used 1H NMR spectroscopy to study serum and urine from the patient.
The concentration of N, N-dimethylglycine (DMG) was increased approximately 100-fold in the serum and approximately 20-fold in the urine. The presence of DMG as a storage product was confirmed by use of 13C NMR spectroscopy and gas chromatography-mass spectrometry. The high concentration of DMG was caused by a deficiency of the enzyme dimethylglycine dehydrogenase (DMGDH). A homozygous missense mutation was found in the DMGDH gene of the patient.
DMGDH deficiency must be added to the differential diagnosis of patients complaining of a fish odor. This deficiency is the first inborn error of metabolism discovered by use of in vitro 1H NMR spectroscopy of body fluids.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Dimethylglycine Dehydrogenase</subject><subject>Gas Chromatography-Mass Spectrometry</subject><subject>Humans</subject><subject>Investigative techniques, diagnostic techniques (general aspects)</subject><subject>Magnetic Resonance Spectroscopy</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Metabolism, Inborn Errors - blood</subject><subject>Metabolism, Inborn Errors - enzymology</subject><subject>Metabolism, Inborn Errors - physiopathology</subject><subject>Metabolism, Inborn Errors - urine</subject><subject>Mitochondrial Proteins</subject><subject>Mutation, Missense</subject><subject>Odorants</subject><subject>Oxidoreductases, N-Demethylating - deficiency</subject><subject>Oxidoreductases, N-Demethylating - genetics</subject><subject>Oxidoreductases, N-Demethylating - urine</subject><subject>Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques</subject><subject>Sarcosine - analogs & derivatives</subject><subject>Sarcosine - urine</subject><issn>0009-9147</issn><issn>1530-8561</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpNkEFv1DAQhS0EokvLD-CCfKCcyNZObMfmVnVbqNQWicLZcpzJxsiJFzurKP--RrtALzN60vfejB5C7yhZU6KqC-vdaHsYLhhfszXj6gVaUV6RQnJBX6IVIUQVirL6BL1J6VeWrJbiNTqhhJJSEbZCZgMd2Am7EW_cAFO_-K1frBsBb6Bf2hi2MJoEn7DBDzDj27EJccTXMYaIQ4fvYTJN8C4Nn_HD_Xf8uMtpMSQbdgt-nPbtcoZedcYneHvcp-jnzfWPq6_F3bcvt1eXd4WtlJoKzmRNGlk2lAnRcKk456wjsiUgK1FS0qq2atuaWiKVrFpCSi6MkZ3NqoGuOkUfD7m7GH7vIU16cMmC92aEsE9aKCFEVcsM0gNo858pQqd30Q0mLpoS_adX_bdXzbhmeajseX8M3zcDtM8chyIz8OEImGSN76IZrUv_uZqLuiQZOz9gvdv2s4ug02C8z6lUz_P8794TSceO2A</recordid><startdate>19990401</startdate><enddate>19990401</enddate><creator>Moolenaar, Sytske H</creator><creator>Poggi-Bach, Jo</creator><creator>Engelke, Udo F.H</creator><creator>Corstiaensen, Jacqueline M.B</creator><creator>Heerschap, Arend</creator><creator>de Jong, Jan G.N</creator><creator>Binzak, Barbara A</creator><creator>Vockley, Jerry</creator><creator>Wevers, Ron A</creator><general>Am Assoc Clin Chem</general><general>American Association for Clinical Chemistry</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>19990401</creationdate><title>Defect in Dimethylglycine Dehydrogenase, a New Inborn Error of Metabolism: NMR Spectroscopy Study</title><author>Moolenaar, Sytske H ; Poggi-Bach, Jo ; Engelke, Udo F.H ; Corstiaensen, Jacqueline M.B ; Heerschap, Arend ; de Jong, Jan G.N ; Binzak, Barbara A ; Vockley, Jerry ; Wevers, Ron A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c399t-54870b82b1466b5895554f08d0e836210d9d3dd71c08983d00256aa8fc983bef3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Dimethylglycine Dehydrogenase</topic><topic>Gas Chromatography-Mass Spectrometry</topic><topic>Humans</topic><topic>Investigative techniques, diagnostic techniques (general aspects)</topic><topic>Magnetic Resonance Spectroscopy</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Metabolism, Inborn Errors - blood</topic><topic>Metabolism, Inborn Errors - enzymology</topic><topic>Metabolism, Inborn Errors - physiopathology</topic><topic>Metabolism, Inborn Errors - urine</topic><topic>Mitochondrial Proteins</topic><topic>Mutation, Missense</topic><topic>Odorants</topic><topic>Oxidoreductases, N-Demethylating - deficiency</topic><topic>Oxidoreductases, N-Demethylating - genetics</topic><topic>Oxidoreductases, N-Demethylating - urine</topic><topic>Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques</topic><topic>Sarcosine - analogs & derivatives</topic><topic>Sarcosine - urine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Moolenaar, Sytske H</creatorcontrib><creatorcontrib>Poggi-Bach, Jo</creatorcontrib><creatorcontrib>Engelke, Udo F.H</creatorcontrib><creatorcontrib>Corstiaensen, Jacqueline M.B</creatorcontrib><creatorcontrib>Heerschap, Arend</creatorcontrib><creatorcontrib>de Jong, Jan G.N</creatorcontrib><creatorcontrib>Binzak, Barbara A</creatorcontrib><creatorcontrib>Vockley, Jerry</creatorcontrib><creatorcontrib>Wevers, Ron A</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>Clinical chemistry (Baltimore, Md.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Moolenaar, Sytske H</au><au>Poggi-Bach, Jo</au><au>Engelke, Udo F.H</au><au>Corstiaensen, Jacqueline M.B</au><au>Heerschap, Arend</au><au>de Jong, Jan G.N</au><au>Binzak, Barbara A</au><au>Vockley, Jerry</au><au>Wevers, Ron A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Defect in Dimethylglycine Dehydrogenase, a New Inborn Error of Metabolism: NMR Spectroscopy Study</atitle><jtitle>Clinical chemistry (Baltimore, Md.)</jtitle><addtitle>Clin Chem</addtitle><date>1999-04-01</date><risdate>1999</risdate><volume>45</volume><issue>4</issue><spage>459</spage><epage>464</epage><pages>459-464</pages><issn>0009-9147</issn><eissn>1530-8561</eissn><coden>CLCHAU</coden><abstract>A38-year-old man presented with a history of fish odor (since age 5) and unusual muscle fatigue with increased serum creatine kinase. Our aim was to identify the metabolic error in this new condition.
We used 1H NMR spectroscopy to study serum and urine from the patient.
The concentration of N, N-dimethylglycine (DMG) was increased approximately 100-fold in the serum and approximately 20-fold in the urine. The presence of DMG as a storage product was confirmed by use of 13C NMR spectroscopy and gas chromatography-mass spectrometry. The high concentration of DMG was caused by a deficiency of the enzyme dimethylglycine dehydrogenase (DMGDH). A homozygous missense mutation was found in the DMGDH gene of the patient.
DMGDH deficiency must be added to the differential diagnosis of patients complaining of a fish odor. This deficiency is the first inborn error of metabolism discovered by use of in vitro 1H NMR spectroscopy of body fluids.</abstract><cop>Washington, DC</cop><pub>Am Assoc Clin Chem</pub><pmid>10102904</pmid><doi>10.1093/clinchem/45.4.459</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Clinical chemistry (Baltimore, Md.), 1999-04, Vol.45 (4), p.459-464 |
| issn | 0009-9147 1530-8561 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_69666378 |
| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE |
| subjects | Adult Biological and medical sciences Dimethylglycine Dehydrogenase Gas Chromatography-Mass Spectrometry Humans Investigative techniques, diagnostic techniques (general aspects) Magnetic Resonance Spectroscopy Male Medical sciences Metabolic diseases Metabolism, Inborn Errors - blood Metabolism, Inborn Errors - enzymology Metabolism, Inborn Errors - physiopathology Metabolism, Inborn Errors - urine Mitochondrial Proteins Mutation, Missense Odorants Oxidoreductases, N-Demethylating - deficiency Oxidoreductases, N-Demethylating - genetics Oxidoreductases, N-Demethylating - urine Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Sarcosine - analogs & derivatives Sarcosine - urine |
| title | Defect in Dimethylglycine Dehydrogenase, a New Inborn Error of Metabolism: NMR Spectroscopy Study |
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