Short-Chain Acyl-CoA Dehydrogenase Deficiency Associated with Early Onset Severe Axonal Neuropathy
Abstract Two unusual cases of axonal neuropathy associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency are described. These two unrelated infants presented with profound generalised weakness, particularly affecting the upper limbs. Clinical examination revealed generalised peripheral h...
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| Veröffentlicht in: | Neuropediatrics 2004-10, Vol.35 (5), p.312-316 |
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| creator | Kurian, M. A. Hartley, L. Zolkipli, Z. Little, M. A. Costigan, D. Naughten, E. R. Olpin, S. Muntoni, F. King, M. D. |
| description | Abstract
Two unusual cases of axonal neuropathy associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency are described. These two unrelated infants presented with profound generalised weakness, particularly affecting the upper limbs. Clinical examination revealed generalised peripheral hypotonia and weakness, with absent deep tendon reflexes. An axonal polyneuropathy was confirmed on electromyogram (EMG) and nerve conduction studies (NCS) and, following an extensive metabolic screen, an acylcarnitine and organic acid profile consistent with a short-chain fatty acid beta-oxidation defect was found. In both cases, SCAD deficiency was confirmed by enzyme analysis. Genetic analysis showed the presence of common gene variations in the SCAD gene. SCAD deficiency is a rare disorder with a wide clinical phenotype. SCAD deficiency associated with axonal neuropathy has not previously been reported. As highlighted in these cases, it may be necessary to include axonal neuropathy as a presenting feature of SCAD. |
| doi_str_mv | 10.1055/s-2004-830371 |
| format | Article |
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Two unusual cases of axonal neuropathy associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency are described. These two unrelated infants presented with profound generalised weakness, particularly affecting the upper limbs. Clinical examination revealed generalised peripheral hypotonia and weakness, with absent deep tendon reflexes. An axonal polyneuropathy was confirmed on electromyogram (EMG) and nerve conduction studies (NCS) and, following an extensive metabolic screen, an acylcarnitine and organic acid profile consistent with a short-chain fatty acid beta-oxidation defect was found. In both cases, SCAD deficiency was confirmed by enzyme analysis. Genetic analysis showed the presence of common gene variations in the SCAD gene. SCAD deficiency is a rare disorder with a wide clinical phenotype. SCAD deficiency associated with axonal neuropathy has not previously been reported. As highlighted in these cases, it may be necessary to include axonal neuropathy as a presenting feature of SCAD.</description><identifier>ISSN: 0174-304X</identifier><identifier>EISSN: 1439-1899</identifier><identifier>DOI: 10.1055/s-2004-830371</identifier><identifier>PMID: 15534767</identifier><identifier>CODEN: NRPDDB</identifier><language>eng</language><publisher>Stuttgart: Thieme</publisher><subject>Age of Onset ; Axons ; Biological and medical sciences ; Butyryl-CoA Dehydrogenase - deficiency ; Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction ; Diseases of striated muscles. Neuromuscular diseases ; Humans ; Infant ; Male ; Medical sciences ; Muscle Weakness - etiology ; Nervous system (semeiology, syndromes) ; Neurology ; Polyneuropathies - etiology ; Short Communication</subject><ispartof>Neuropediatrics, 2004-10, Vol.35 (5), p.312-316</ispartof><rights>Georg Thieme Verlag KG Stuttgart · New York</rights><rights>2005 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c387t-400cd56a6ab6961c3099fad37a6281b86d18e382835215e288568705818cc8453</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-2004-830371.pdf$$EPDF$$P50$$Gthieme$$H</linktopdf><linktohtml>$$Uhttps://www.thieme-connect.de/products/ejournals/html/10.1055/s-2004-830371$$EHTML$$P50$$Gthieme$$H</linktohtml><link.rule.ids>315,782,786,3019,3020,27931,27932,54566,54567</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16285529$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15534767$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kurian, M. A.</creatorcontrib><creatorcontrib>Hartley, L.</creatorcontrib><creatorcontrib>Zolkipli, Z.</creatorcontrib><creatorcontrib>Little, M. A.</creatorcontrib><creatorcontrib>Costigan, D.</creatorcontrib><creatorcontrib>Naughten, E. R.</creatorcontrib><creatorcontrib>Olpin, S.</creatorcontrib><creatorcontrib>Muntoni, F.</creatorcontrib><creatorcontrib>King, M. D.</creatorcontrib><title>Short-Chain Acyl-CoA Dehydrogenase Deficiency Associated with Early Onset Severe Axonal Neuropathy</title><title>Neuropediatrics</title><addtitle>Neuropediatrics</addtitle><description>Abstract
Two unusual cases of axonal neuropathy associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency are described. These two unrelated infants presented with profound generalised weakness, particularly affecting the upper limbs. Clinical examination revealed generalised peripheral hypotonia and weakness, with absent deep tendon reflexes. An axonal polyneuropathy was confirmed on electromyogram (EMG) and nerve conduction studies (NCS) and, following an extensive metabolic screen, an acylcarnitine and organic acid profile consistent with a short-chain fatty acid beta-oxidation defect was found. In both cases, SCAD deficiency was confirmed by enzyme analysis. Genetic analysis showed the presence of common gene variations in the SCAD gene. SCAD deficiency is a rare disorder with a wide clinical phenotype. SCAD deficiency associated with axonal neuropathy has not previously been reported. As highlighted in these cases, it may be necessary to include axonal neuropathy as a presenting feature of SCAD.</description><subject>Age of Onset</subject><subject>Axons</subject><subject>Biological and medical sciences</subject><subject>Butyryl-CoA Dehydrogenase - deficiency</subject><subject>Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Muscle Weakness - etiology</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Neurology</subject><subject>Polyneuropathies - etiology</subject><subject>Short Communication</subject><issn>0174-304X</issn><issn>1439-1899</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0E1P3DAQBmCrKioL7bFX5Et7qmEcf8Q5RssWKiE4UCRukdeZEKNsvLUT2vx7stqVOFWcRiM9ekfzEvKVwzkHpS4SywAkMwJEzj-QBZeiYNwUxUeyAJ5LJkA-HpOTlJ4BuCxAfyLHXCkhc50vyPq-DXFgy9b6npZu6tgylPQS26mO4Ql7m3DeGu889m6iZUrBeTtgTf_6oaUrG7uJ3vUJB3qPLxiRlv9Cbzt6i2MMWzu002dy1Ngu4ZfDPCUPP1e_l9fs5u7q17K8YU6YfGASwNVKW23XutDcCSiKxtYitzozfG10zQ0KkxmhMq4wM0Zpk4My3DhnpBKn5Ps-dxvDnxHTUG18cth1tscwpkrnoKWU-l2Y7VwGxQzZHroYUorYVNvoNzZOFYdq1361wyCrffuzPzsEj-sN1m_6UPcMvh2ATc52TbS98-nNzZ8qle0O_9i7ofW4weo5jHEuNf3n7it3WJik</recordid><startdate>20041001</startdate><enddate>20041001</enddate><creator>Kurian, M. A.</creator><creator>Hartley, L.</creator><creator>Zolkipli, Z.</creator><creator>Little, M. A.</creator><creator>Costigan, D.</creator><creator>Naughten, E. R.</creator><creator>Olpin, S.</creator><creator>Muntoni, F.</creator><creator>King, M. D.</creator><general>Thieme</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>7TK</scope><scope>7X8</scope></search><sort><creationdate>20041001</creationdate><title>Short-Chain Acyl-CoA Dehydrogenase Deficiency Associated with Early Onset Severe Axonal Neuropathy</title><author>Kurian, M. A. ; Hartley, L. ; Zolkipli, Z. ; Little, M. A. ; Costigan, D. ; Naughten, E. R. ; Olpin, S. ; Muntoni, F. ; King, M. D.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c387t-400cd56a6ab6961c3099fad37a6281b86d18e382835215e288568705818cc8453</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Age of Onset</topic><topic>Axons</topic><topic>Biological and medical sciences</topic><topic>Butyryl-CoA Dehydrogenase - deficiency</topic><topic>Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Muscle Weakness - etiology</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Neurology</topic><topic>Polyneuropathies - etiology</topic><topic>Short Communication</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kurian, M. A.</creatorcontrib><creatorcontrib>Hartley, L.</creatorcontrib><creatorcontrib>Zolkipli, Z.</creatorcontrib><creatorcontrib>Little, M. A.</creatorcontrib><creatorcontrib>Costigan, D.</creatorcontrib><creatorcontrib>Naughten, E. R.</creatorcontrib><creatorcontrib>Olpin, S.</creatorcontrib><creatorcontrib>Muntoni, F.</creatorcontrib><creatorcontrib>King, M. D.</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>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Neuropediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kurian, M. A.</au><au>Hartley, L.</au><au>Zolkipli, Z.</au><au>Little, M. A.</au><au>Costigan, D.</au><au>Naughten, E. R.</au><au>Olpin, S.</au><au>Muntoni, F.</au><au>King, M. D.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Short-Chain Acyl-CoA Dehydrogenase Deficiency Associated with Early Onset Severe Axonal Neuropathy</atitle><jtitle>Neuropediatrics</jtitle><addtitle>Neuropediatrics</addtitle><date>2004-10-01</date><risdate>2004</risdate><volume>35</volume><issue>5</issue><spage>312</spage><epage>316</epage><pages>312-316</pages><issn>0174-304X</issn><eissn>1439-1899</eissn><coden>NRPDDB</coden><abstract>Abstract
Two unusual cases of axonal neuropathy associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency are described. These two unrelated infants presented with profound generalised weakness, particularly affecting the upper limbs. Clinical examination revealed generalised peripheral hypotonia and weakness, with absent deep tendon reflexes. An axonal polyneuropathy was confirmed on electromyogram (EMG) and nerve conduction studies (NCS) and, following an extensive metabolic screen, an acylcarnitine and organic acid profile consistent with a short-chain fatty acid beta-oxidation defect was found. In both cases, SCAD deficiency was confirmed by enzyme analysis. Genetic analysis showed the presence of common gene variations in the SCAD gene. SCAD deficiency is a rare disorder with a wide clinical phenotype. SCAD deficiency associated with axonal neuropathy has not previously been reported. As highlighted in these cases, it may be necessary to include axonal neuropathy as a presenting feature of SCAD.</abstract><cop>Stuttgart</cop><pub>Thieme</pub><pmid>15534767</pmid><doi>10.1055/s-2004-830371</doi><tpages>5</tpages></addata></record> |
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| subjects | Age of Onset Axons Biological and medical sciences Butyryl-CoA Dehydrogenase - deficiency Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction Diseases of striated muscles. Neuromuscular diseases Humans Infant Male Medical sciences Muscle Weakness - etiology Nervous system (semeiology, syndromes) Neurology Polyneuropathies - etiology Short Communication |
| title | Short-Chain Acyl-CoA Dehydrogenase Deficiency Associated with Early Onset Severe Axonal Neuropathy |
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