{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T07:04:16Z","timestamp":1791529456912,"version":"4.3.4"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,2,1]],"date-time":"2006-02-01T00:00:00Z","timestamp":1138752000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2006,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Mitochondrial HMG\u2010CoA synthase deficiency is an inherited metabolic disorder caused by a defect in the enzyme that regulates the formation of ketone bodies. Patients present with hypoketotic hypoglycaemia, encephalopathy and hepatomegaly, usually precipitated by an intercurrent infection or prolonged fasting. The diagnosis may easily be missed as previously reported results of routine metabolic investigations, urinary organic acids and plasma acylcarnitines may be nonspecific or normal, and a high index of suspicion is required to proceed to further confirmatory tests. We describe a further acute case in which the combination of urinary organic acids, low free carnitine and changes in the plasma acylcarnitine profile on carnitine supplementation were very suggestive of a defect in ketone synthesis. The diagnosis of mitochondrial HMG\u2010CoA synthase deficiency was confirmed on genotyping, revealing two novel mutations: c.614G &gt; A (R188H) and c.971T &gt; C (M307T). A further sibling, in whom the diagnosis had not been made acutely, was also found to be affected. The possible effects of these mutations on enzyme activity are discussed.<\/jats:p>","DOI":"10.1007\/s10545-006-0214-2","type":"journal-article","created":{"date-parts":[[2006,4,6]],"date-time":"2006-04-06T21:48:10Z","timestamp":1144360090000},"page":"207-211","source":"Crossref","is-referenced-by-count":37,"title":["Refining the diagnosis of mitochondrial HMG\u2010CoA synthase deficiency"],"prefix":"10.1002","volume":"29","author":[{"given":"R.","family":"Aledo","sequence":"first","affiliation":[{"name":"Unit of Biochemistry and Molecular Biology, School of Health Sciences International University of Catalonia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Mir","sequence":"additional","affiliation":[{"name":"Unit of Biochemistry and Molecular Biology, School of Health Sciences International University of Catalonia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. N.","family":"Dalton","sequence":"additional","affiliation":[{"name":"Wellchild Trust Research Laboratory Guy's Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Turner","sequence":"additional","affiliation":[{"name":"Wellchild Trust Research Laboratory Guy's Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Pi\u00e9","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Physiology, School of Medicine University of Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. G.","family":"Hegardt","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology University of Barcelona, School of Pharmacy Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Casals","sequence":"additional","affiliation":[{"name":"Unit of Biochemistry and Molecular Biology, School of Health Sciences International University of Catalonia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. P.","family":"Champion","sequence":"additional","affiliation":[{"name":"Department of Paediatric Metabolic Medicine, Level 6\u2013Sky Evelina Children's Hospital, St Thomas Hospital Lambeth Palace Road London SE1 7EH UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100554"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200103000-00005"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3380569"},{"key":"e_1_2_1_5_1","first-page":"2327","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Mitchell GA","year":"2001"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199809000-00021"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199710233371704"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-002-1110-x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.123854"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0214-2","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0214-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T05:28:12Z","timestamp":1694755692000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-006-0214-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,2]]}},"alternative-id":["10.1007\/s10545-006-0214-2"],"URL":"https:\/\/doi.org\/10.1007\/s10545-006-0214-2","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2]]}}}