Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy
We report on a 16‐year‐old girl with short‐chain L‐3‐hydroxyacyl‐coenzyme A (CoA) dehydrogenase deficiency resulting in juvenile‐onset recurrent myoglobinuria, hypoketotic hypoglycemic encephalopathy, and hypertrophic/dilatative cardiomyopathy. Urinary organic acids showed traces of 3‐hydroxy‐dodeca...
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| Veröffentlicht in: | Annals of neurology 1991-09, Vol.30 (3), p.415-419 |
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| container_title | Annals of neurology |
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| creator | Tein, I. De Vivo, D. C. Hale, D. E. Clarke, J. T. R. Zinman, H. Laxer, R. Shore, A. Dimauro, S. |
| description | We report on a 16‐year‐old girl with short‐chain L‐3‐hydroxyacyl‐coenzyme A (CoA) dehydrogenase deficiency resulting in juvenile‐onset recurrent myoglobinuria, hypoketotic hypoglycemic encephalopathy, and hypertrophic/dilatative cardiomyopathy. Urinary organic acids showed traces of 3‐hydroxy‐dodecanedioic acids and small amounts of suberic, sebacic, and adipic acids. There was a marked decrease in L‐3‐hydroxyacyl‐CoA dehydrogenase activity in muscle with acetoacetyl‐CoA as substrate (2.48 μmol/min/gm; normal = 6.90 ± 1.80 μmol/min/gm of tissue; n = 11), contrasting with normal L‐3‐hydroxyacyl‐CoA dehydrogenase activity with 3‐ketooctanoyl‐CoA and 3‐ketopalmitoyl‐CoA as substrates. Short‐chain L‐3‐hydroxyacyl‐CoA dehydrogenase activity was normal in fibroblasts, suggesting a tissue‐specific defect. |
| doi_str_mv | 10.1002/ana.410300315 |
| format | Article |
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Short‐chain L‐3‐hydroxyacyl‐CoA dehydrogenase activity was normal in fibroblasts, suggesting a tissue‐specific defect.</description><identifier>ISSN: 0364-5134</identifier><identifier>EISSN: 1531-8249</identifier><identifier>DOI: 10.1002/ana.410300315</identifier><identifier>PMID: 1835339</identifier><identifier>CODEN: ANNED3</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>3-Hydroxyacyl CoA Dehydrogenases - deficiency ; Adolescent ; Biological and medical sciences ; Brain Diseases - etiology ; Cardiomegaly - etiology ; Errors of metabolism ; Female ; Humans ; Lipids (lysosomal enzyme disorders, storage diseases) ; Medical sciences ; Metabolic diseases ; Muscles - enzymology ; Myoglobinuria - etiology ; Recurrence</subject><ispartof>Annals of neurology, 1991-09, Vol.30 (3), p.415-419</ispartof><rights>Copyright © 1991 American Neurological Association</rights><rights>1992 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4035-382925549b9d9413c2207e93e73e1379c4b0b65b42e984b383425d9cfb1710a83</citedby><cites>FETCH-LOGICAL-c4035-382925549b9d9413c2207e93e73e1379c4b0b65b42e984b383425d9cfb1710a83</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.410300315$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fana.410300315$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1416,27923,27924,45573,45574</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=5013192$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1835339$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tein, I.</creatorcontrib><creatorcontrib>De Vivo, D. C.</creatorcontrib><creatorcontrib>Hale, D. E.</creatorcontrib><creatorcontrib>Clarke, J. T. R.</creatorcontrib><creatorcontrib>Zinman, H.</creatorcontrib><creatorcontrib>Laxer, R.</creatorcontrib><creatorcontrib>Shore, A.</creatorcontrib><creatorcontrib>Dimauro, S.</creatorcontrib><title>Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>We report on a 16‐year‐old girl with short‐chain L‐3‐hydroxyacyl‐coenzyme A (CoA) dehydrogenase deficiency resulting in juvenile‐onset recurrent myoglobinuria, hypoketotic hypoglycemic encephalopathy, and hypertrophic/dilatative cardiomyopathy. Urinary organic acids showed traces of 3‐hydroxy‐dodecanedioic acids and small amounts of suberic, sebacic, and adipic acids. There was a marked decrease in L‐3‐hydroxyacyl‐CoA dehydrogenase activity in muscle with acetoacetyl‐CoA as substrate (2.48 μmol/min/gm; normal = 6.90 ± 1.80 μmol/min/gm of tissue; n = 11), contrasting with normal L‐3‐hydroxyacyl‐CoA dehydrogenase activity with 3‐ketooctanoyl‐CoA and 3‐ketopalmitoyl‐CoA as substrates. Short‐chain L‐3‐hydroxyacyl‐CoA dehydrogenase activity was normal in fibroblasts, suggesting a tissue‐specific defect.</description><subject>3-Hydroxyacyl CoA Dehydrogenases - deficiency</subject><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>Brain Diseases - etiology</subject><subject>Cardiomegaly - etiology</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>Humans</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Muscles - enzymology</subject><subject>Myoglobinuria - etiology</subject><subject>Recurrence</subject><issn>0364-5134</issn><issn>1531-8249</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1991</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kEFv1DAQhSMEKkvhyBHJB8TNxfbY65hbtNCCWJUDoB4tx5k0gayz2InaXPjtGHa1cOI0mpnvzRu9onjO2QVnTLx2wV1IzoAx4OpBseIKOC2FNA-LFYO1pIqDfFw8SekbY8ysOTsrzngJCsCsip-fuzFO1HeuD2RLgXZLE8f7xflloJuxIg3-mdxicAlz1_a-x-AXkvndnPyAb0hFAt4R7-ZMtGMkEf0cI4aJ7JbxdhjrPsyxd8SFhmQt7js3jHs3dcvT4lHrhoTPjvW8-Hr57svmPd1-uvqwqbbUSwaKQimMUEqa2jRGcvBCMI0GUANy0MbLmtVrVUuBppQ1lCCFaoxva645cyWcF68Od_dx_DFjmuyuTx6HwQUc52S1kNlC6gzSA-jjmFLE1u5jv3NxsZzZ33nbnLc95Z35F8fDc73D5i99CDjvXx73Lnk3tNEF36cTphgHbkTG9AG76wdc_u9pq-vq3weOD_dpwvuT0sXvdq1BK3tzfWVv9OVHAP7WSvgF_gGnAA</recordid><startdate>199109</startdate><enddate>199109</enddate><creator>Tein, I.</creator><creator>De Vivo, D. C.</creator><creator>Hale, D. E.</creator><creator>Clarke, J. T. R.</creator><creator>Zinman, H.</creator><creator>Laxer, R.</creator><creator>Shore, A.</creator><creator>Dimauro, S.</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>7X8</scope></search><sort><creationdate>199109</creationdate><title>Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy</title><author>Tein, I. ; De Vivo, D. C. ; Hale, D. E. ; Clarke, J. T. R. ; Zinman, H. ; Laxer, R. ; Shore, A. ; Dimauro, S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4035-382925549b9d9413c2207e93e73e1379c4b0b65b42e984b383425d9cfb1710a83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1991</creationdate><topic>3-Hydroxyacyl CoA Dehydrogenases - deficiency</topic><topic>Adolescent</topic><topic>Biological and medical sciences</topic><topic>Brain Diseases - etiology</topic><topic>Cardiomegaly - etiology</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>Humans</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Muscles - enzymology</topic><topic>Myoglobinuria - etiology</topic><topic>Recurrence</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tein, I.</creatorcontrib><creatorcontrib>De Vivo, D. C.</creatorcontrib><creatorcontrib>Hale, D. E.</creatorcontrib><creatorcontrib>Clarke, J. T. R.</creatorcontrib><creatorcontrib>Zinman, H.</creatorcontrib><creatorcontrib>Laxer, R.</creatorcontrib><creatorcontrib>Shore, A.</creatorcontrib><creatorcontrib>Dimauro, S.</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>MEDLINE - Academic</collection><jtitle>Annals of neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tein, I.</au><au>De Vivo, D. C.</au><au>Hale, D. E.</au><au>Clarke, J. T. 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| subjects | 3-Hydroxyacyl CoA Dehydrogenases - deficiency Adolescent Biological and medical sciences Brain Diseases - etiology Cardiomegaly - etiology Errors of metabolism Female Humans Lipids (lysosomal enzyme disorders, storage diseases) Medical sciences Metabolic diseases Muscles - enzymology Myoglobinuria - etiology Recurrence |
| title | Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy |
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