{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T07:45:03Z","timestamp":1787643903670,"version":"build-2736575974"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":4786,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1991,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 16\u2010year\u2010old girl with short\u2010chain<jats:sc>L<\/jats:sc>\u20103\u2010hydroxyacyl\u2010coenzyme A (CoA) dehydrogenase deficiency resulting in juvenile\u2010onset recurrent myoglobinuria, hypoketotic hypoglycemic encephalopathy, and hypertrophic\/dilatative cardiomyopathy. Urinary organic acids showed traces of 3\u2010hydroxy\u2010dodecanedioic acids and small amounts of suberic, sebacic, and adipic acids. There was a marked decrease in<jats:sc>L<\/jats:sc>\u20103\u2010hydroxyacyl\u2010CoA dehydrogenase activity in muscle with acetoacetyl\u2010CoA as substrate (2.48 \u03bcmol\/min\/gm; normal = 6.90 \u00b1 1.80 \u03bcmol\/min\/gm of tissue; n = 11), contrasting with normal<jats:sc>L<\/jats:sc>\u20103\u2010hydroxyacyl\u2010CoA dehydrogenase activity with 3\u2010ketooctanoyl\u2010CoA and 3\u2010ketopalmitoyl\u2010CoA as substrates. Short\u2010chain<jats:sc>L<\/jats:sc>\u20103\u2010hydroxyacyl\u2010CoA dehydrogenase activity was normal in fibroblasts, suggesting a tissue\u2010specific defect.<\/jats:p>","DOI":"10.1002\/ana.410300315","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T12:05:20Z","timestamp":1104581120000},"page":"415-419","source":"Crossref","is-referenced-by-count":73,"title":["Short\u2010chain<scp>L<\/scp>\u20103\u2010hydroxyacyl\u2010CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy"],"prefix":"10.1002","volume":"30","author":[{"given":"I.","family":"Tein","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. C.","family":"De Vivo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. E.","family":"Hale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. T. 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