{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:35:28Z","timestamp":1762004128309},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2009,2,10]],"date-time":"2009-02-10T00:00:00Z","timestamp":1234224000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2009,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Very long chain acyl\u2010CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive inborn error of metabolism characterized by impaired mitochondrial \u03b2\u2010oxidation of fatty acids with a chain length between 14 and 18 carbons. While expansion of newborn screening has improved our ability to detect VLCAD deficiency in early childhood, the late\u2010onset form of the disease still presents a significant diagnostic challenge. We report a 20\u2010year\u2010old female with VLCAD deficiency who first presented in infancy with hypoketotic hypoglycemia. In childhood the patient developed complex partial seizures that were aggravated by Lamotrigine treatment. The clinical course in early adulthood was complicated by recurrent, often unprovoked, episodes of rhabdomyolysis and myoglobinuria. In addition, she suffered from chronic myalgia, muscle weakness, and diffuse abdominal tenderness. A muscle biopsy revealed accumulation of fat droplets. Her acylcarnitine profile showed significantly elevated C14, C14:1, C16, and C18\u2010carnitines. Sequence analysis of <jats:italic>ACADVL<\/jats:italic> revealed a heterozygous recurrent mutation c.848T&gt;C (p.V283A) and a heterozygous novel splice mutation c.879\u20108T&gt;A that results in the inclusion of six nucleotides from intron 9 into the transcript sequence. The molecular characterization of this novel mutation and its correlation with the clinical phenotype are discussed. Muscle Nerve 39: 374\u2013382, 2009<\/jats:p>","DOI":"10.1002\/mus.21157","type":"journal-article","created":{"date-parts":[[2009,2,11]],"date-time":"2009-02-11T20:35:05Z","timestamp":1234384505000},"page":"374-382","source":"Crossref","is-referenced-by-count":21,"title":["Atypical presentation of VLCAD deficiency associated with a novel <i>ACADVL<\/i> splicing mutation"],"prefix":"10.1002","volume":"39","author":[{"given":"Oleg","family":"Shchelochkov","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lee\u2010Jun","family":"Wong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aziz","family":"Shaibani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marwan","family":"Shinawi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,2,10]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/302261"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2006.01482.x"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.12.012"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1006\/bmme.1996.0033"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg086"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70228-8"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0266-3"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0190-y"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.16.7523"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.99.10.1337"},{"key":"e_1_2_7_12_2","volume-title":"Atlas of metabolic diseases","author":"Nyhan WL","year":"1998"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/41.10.1467"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20168"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e31816ff6f0"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI0215311"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1097\/FTD.0b013e31815bf239"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.02.037"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410430422"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1067\/S0022-3476(03)00292-0"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1320.004"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.23.10496"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.35.7.1041"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(97)00185-X"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200005)15:5<430::AID-HUMU4>3.0.CO;2-1"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.130259"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.21157","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.21157","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T06:10:25Z","timestamp":1696659025000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.21157"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,10]]},"references-count":25,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,3]]}},"alternative-id":["10.1002\/mus.21157"],"URL":"https:\/\/doi.org\/10.1002\/mus.21157","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2,10]]}}}