Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase
Abstract We report a case of a 37 year-old male with multiple acyl-CoA dehydrogenation deficiency (MADD). The patient had suffered from exercise intolerance in his hip and thigh muscles for one year. Then, restriction of carbohydrates for a diet made his symptoms rapidly deteriorate. Blood test reve...
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| Veröffentlicht in: | Neuromuscular disorders : NMD 2012-02, Vol.22 (2), p.159-161 |
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| container_title | Neuromuscular disorders : NMD |
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| creator | Sugai, Fuminobu Baba, Kousuke Toyooka, Keiko Liang, Wen-Chen Nishino, Ichizo Yamadera, Misaki Sumi, Hisae Fujimura, Harutoshi Nishikawa, Yoshiro |
| description | Abstract We report a case of a 37 year-old male with multiple acyl-CoA dehydrogenation deficiency (MADD). The patient had suffered from exercise intolerance in his hip and thigh muscles for one year. Then, restriction of carbohydrates for a diet made his symptoms rapidly deteriorate. Blood test revealed compound heterozygosity for two novel missense mutations in the electron transfer flavoprotein dehydrogenase gene ( ETFDH ), and an abnormal LDH isoenzyme pattern: LDH-1 (60.0%) and LDH-2 (26.0%) predominated with abnormally elevated LDH-1/LDH-2 ratio (2.3), compared with muscle-derived LDH-5 (4.0%). Oral riboflavin treatment significantly improved his exercise intolerance and the LDH profile: LDH-1 (34.4%), LDH-2 (34.9%), LDH-5 (6.9%) and LDH-1/LDH-2 ratio (1.0). The abnormal LDH isoenzyme pattern may be one feature of adult-onset MADD selectively affecting type I muscle fibers with relatively high LDH-1 content. |
| doi_str_mv | 10.1016/j.nmd.2011.08.004 |
| format | Article |
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The patient had suffered from exercise intolerance in his hip and thigh muscles for one year. Then, restriction of carbohydrates for a diet made his symptoms rapidly deteriorate. Blood test revealed compound heterozygosity for two novel missense mutations in the electron transfer flavoprotein dehydrogenase gene ( ETFDH ), and an abnormal LDH isoenzyme pattern: LDH-1 (60.0%) and LDH-2 (26.0%) predominated with abnormally elevated LDH-1/LDH-2 ratio (2.3), compared with muscle-derived LDH-5 (4.0%). Oral riboflavin treatment significantly improved his exercise intolerance and the LDH profile: LDH-1 (34.4%), LDH-2 (34.9%), LDH-5 (6.9%) and LDH-1/LDH-2 ratio (1.0). The abnormal LDH isoenzyme pattern may be one feature of adult-onset MADD selectively affecting type I muscle fibers with relatively high LDH-1 content.</description><identifier>ISSN: 0960-8966</identifier><identifier>EISSN: 1873-2364</identifier><identifier>DOI: 10.1016/j.nmd.2011.08.004</identifier><identifier>PMID: 21907580</identifier><language>eng</language><publisher>England: Elsevier B.V</publisher><subject>Adult ; Electron transfer flavoprotein dehydrogenase ; Humans ; Isoenzyme ; Isoenzymes - blood ; L-Lactate Dehydrogenase - blood ; Lactate dehydrogenase ; Male ; Multiple acyl CoA dehydrogenation deficiency ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency - diagnosis ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency - enzymology ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency - genetics ; Neurology ; Riboflavin ; Riboflavin - therapeutic use</subject><ispartof>Neuromuscular disorders : NMD, 2012-02, Vol.22 (2), p.159-161</ispartof><rights>Elsevier B.V.</rights><rights>2011 Elsevier B.V.</rights><rights>Copyright © 2011 Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c439t-166240b885a27c120d8447feef17665ce098367e54b501a6c7dbf7df2e8826433</citedby><cites>FETCH-LOGICAL-c439t-166240b885a27c120d8447feef17665ce098367e54b501a6c7dbf7df2e8826433</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.nmd.2011.08.004$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>315,781,785,3551,27929,27930,46000</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21907580$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sugai, Fuminobu</creatorcontrib><creatorcontrib>Baba, Kousuke</creatorcontrib><creatorcontrib>Toyooka, Keiko</creatorcontrib><creatorcontrib>Liang, Wen-Chen</creatorcontrib><creatorcontrib>Nishino, Ichizo</creatorcontrib><creatorcontrib>Yamadera, Misaki</creatorcontrib><creatorcontrib>Sumi, Hisae</creatorcontrib><creatorcontrib>Fujimura, Harutoshi</creatorcontrib><creatorcontrib>Nishikawa, Yoshiro</creatorcontrib><title>Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase</title><title>Neuromuscular disorders : NMD</title><addtitle>Neuromuscul Disord</addtitle><description>Abstract We report a case of a 37 year-old male with multiple acyl-CoA dehydrogenation deficiency (MADD). The patient had suffered from exercise intolerance in his hip and thigh muscles for one year. Then, restriction of carbohydrates for a diet made his symptoms rapidly deteriorate. Blood test revealed compound heterozygosity for two novel missense mutations in the electron transfer flavoprotein dehydrogenase gene ( ETFDH ), and an abnormal LDH isoenzyme pattern: LDH-1 (60.0%) and LDH-2 (26.0%) predominated with abnormally elevated LDH-1/LDH-2 ratio (2.3), compared with muscle-derived LDH-5 (4.0%). Oral riboflavin treatment significantly improved his exercise intolerance and the LDH profile: LDH-1 (34.4%), LDH-2 (34.9%), LDH-5 (6.9%) and LDH-1/LDH-2 ratio (1.0). The abnormal LDH isoenzyme pattern may be one feature of adult-onset MADD selectively affecting type I muscle fibers with relatively high LDH-1 content.</description><subject>Adult</subject><subject>Electron transfer flavoprotein dehydrogenase</subject><subject>Humans</subject><subject>Isoenzyme</subject><subject>Isoenzymes - blood</subject><subject>L-Lactate Dehydrogenase - blood</subject><subject>Lactate dehydrogenase</subject><subject>Male</subject><subject>Multiple acyl CoA dehydrogenation deficiency</subject><subject>Multiple Acyl Coenzyme A Dehydrogenase Deficiency - diagnosis</subject><subject>Multiple Acyl Coenzyme A Dehydrogenase Deficiency - enzymology</subject><subject>Multiple Acyl Coenzyme A Dehydrogenase Deficiency - genetics</subject><subject>Neurology</subject><subject>Riboflavin</subject><subject>Riboflavin - therapeutic use</subject><issn>0960-8966</issn><issn>1873-2364</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkk-LFDEQxYMo7rj6AbxIbp66TdLdSRpBGAb_wYIH9RwySbWbMZ2MSXqlvfu9zTiriAfxVFXw3ju8XyH0mJKWEsqfHdow25YRSlsiW0L6O2hDpega1vH-LtqQkZNGjpxfoAc5Hwihg-DiPrpgdCRikGSDvm_t4ksTQ4aC57q6oweszerxLm6xhevVpvgJgi4uhnpPzjgIZsU652icLmDxV1eusQ5Y70NMs_bY5Qjh2zoDPupSIAUcJ5whLTP22pRq-jM5w0N0b9I-w6PbeYk-vnr5YfemuXr3-u1ue9WYvhtLQzlnPdlLOWgmDGXEyr4XE8BEBeeDATLKjgsY-v1AqOZG2P0k7MRASsb7rrtET8-5xxS_LJCLml024L0OEJesRsal5AP_DyUdGRMDG6uSnpUmxZwTTOqY3KzTqihRJ0zqoComdcKkiFQVU_U8uU1f9jPY345fXKrg-VkAtY0bB0nln7WDdQlMUTa6f8a_-MttvAvOaP8ZVsiHuKRQa1ZUZaaIen_6k9Ob0JrXdYx0PwA1Hbm-</recordid><startdate>20120201</startdate><enddate>20120201</enddate><creator>Sugai, Fuminobu</creator><creator>Baba, Kousuke</creator><creator>Toyooka, Keiko</creator><creator>Liang, Wen-Chen</creator><creator>Nishino, Ichizo</creator><creator>Yamadera, Misaki</creator><creator>Sumi, Hisae</creator><creator>Fujimura, Harutoshi</creator><creator>Nishikawa, Yoshiro</creator><general>Elsevier B.V</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><scope>7TK</scope></search><sort><creationdate>20120201</creationdate><title>Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase</title><author>Sugai, Fuminobu ; Baba, Kousuke ; Toyooka, Keiko ; Liang, Wen-Chen ; Nishino, Ichizo ; Yamadera, Misaki ; Sumi, Hisae ; Fujimura, Harutoshi ; Nishikawa, Yoshiro</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c439t-166240b885a27c120d8447feef17665ce098367e54b501a6c7dbf7df2e8826433</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adult</topic><topic>Electron transfer flavoprotein dehydrogenase</topic><topic>Humans</topic><topic>Isoenzyme</topic><topic>Isoenzymes - blood</topic><topic>L-Lactate Dehydrogenase - blood</topic><topic>Lactate dehydrogenase</topic><topic>Male</topic><topic>Multiple acyl CoA dehydrogenation deficiency</topic><topic>Multiple Acyl Coenzyme A Dehydrogenase Deficiency - diagnosis</topic><topic>Multiple Acyl Coenzyme A Dehydrogenase Deficiency - enzymology</topic><topic>Multiple Acyl Coenzyme A Dehydrogenase Deficiency - genetics</topic><topic>Neurology</topic><topic>Riboflavin</topic><topic>Riboflavin - therapeutic use</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sugai, Fuminobu</creatorcontrib><creatorcontrib>Baba, Kousuke</creatorcontrib><creatorcontrib>Toyooka, Keiko</creatorcontrib><creatorcontrib>Liang, Wen-Chen</creatorcontrib><creatorcontrib>Nishino, Ichizo</creatorcontrib><creatorcontrib>Yamadera, Misaki</creatorcontrib><creatorcontrib>Sumi, Hisae</creatorcontrib><creatorcontrib>Fujimura, Harutoshi</creatorcontrib><creatorcontrib>Nishikawa, Yoshiro</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><collection>Neurosciences Abstracts</collection><jtitle>Neuromuscular disorders : NMD</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sugai, Fuminobu</au><au>Baba, Kousuke</au><au>Toyooka, Keiko</au><au>Liang, Wen-Chen</au><au>Nishino, Ichizo</au><au>Yamadera, Misaki</au><au>Sumi, Hisae</au><au>Fujimura, Harutoshi</au><au>Nishikawa, Yoshiro</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase</atitle><jtitle>Neuromuscular disorders : NMD</jtitle><addtitle>Neuromuscul Disord</addtitle><date>2012-02-01</date><risdate>2012</risdate><volume>22</volume><issue>2</issue><spage>159</spage><epage>161</epage><pages>159-161</pages><issn>0960-8966</issn><eissn>1873-2364</eissn><abstract>Abstract We report a case of a 37 year-old male with multiple acyl-CoA dehydrogenation deficiency (MADD). The patient had suffered from exercise intolerance in his hip and thigh muscles for one year. Then, restriction of carbohydrates for a diet made his symptoms rapidly deteriorate. Blood test revealed compound heterozygosity for two novel missense mutations in the electron transfer flavoprotein dehydrogenase gene ( ETFDH ), and an abnormal LDH isoenzyme pattern: LDH-1 (60.0%) and LDH-2 (26.0%) predominated with abnormally elevated LDH-1/LDH-2 ratio (2.3), compared with muscle-derived LDH-5 (4.0%). Oral riboflavin treatment significantly improved his exercise intolerance and the LDH profile: LDH-1 (34.4%), LDH-2 (34.9%), LDH-5 (6.9%) and LDH-1/LDH-2 ratio (1.0). The abnormal LDH isoenzyme pattern may be one feature of adult-onset MADD selectively affecting type I muscle fibers with relatively high LDH-1 content.</abstract><cop>England</cop><pub>Elsevier B.V</pub><pmid>21907580</pmid><doi>10.1016/j.nmd.2011.08.004</doi><tpages>3</tpages></addata></record> |
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| subjects | Adult Electron transfer flavoprotein dehydrogenase Humans Isoenzyme Isoenzymes - blood L-Lactate Dehydrogenase - blood Lactate dehydrogenase Male Multiple acyl CoA dehydrogenation deficiency Multiple Acyl Coenzyme A Dehydrogenase Deficiency - diagnosis Multiple Acyl Coenzyme A Dehydrogenase Deficiency - enzymology Multiple Acyl Coenzyme A Dehydrogenase Deficiency - genetics Neurology Riboflavin Riboflavin - therapeutic use |
| title | Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase |
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