{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:20:32Z","timestamp":1777868432213,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Enzyme Protein"],"abstract":"<jats:p>We report on 2 children, brother and sister, who presented with cardiomyopathy\nand muscular hypotonia at the age of 8 months. They both excreted significant amounts\nof 3-hydroxy-3-methylglutaric acid (3-HMG) and 3-methylglutaconic acid (3-MGC) but\nno 3-methylglutaric acid (3-MG). Enzyme analysis in fibroblasts revealed normal activities\nof 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase and of 3-methylglutaconyl\nhydratase and other enzymes of 3-HMG metabolism. Loading tests with leucine did not\naffect the excretion of 3-HMG and 3-MGC. The girl died as a result of her cardiomyopathy.\nwhile the boy recovered and was treated with cardiac supportive therapy. He\nshowed a steady improvement during his clinical course with biochemical normalization\nof the urinary excretion of 3-HMG, concomitant with marked improvement in the hypertrophic\ncardiomyopathy. In cultured fibroblasts from both patients a reduced activity\nof complex II\/III of the respiratory chain was measured which may be the cause of this\nnew type of 3-HMG uria. Analysis of mitochondrial DNA heart muscle, liver and fibroblast\nculture of the patient did not reveal any major mitochondrial DNA rearrangements\n(deletion, duplication) or any point mutation that had been described in association\nwith mitochondrial cardiomyopathy.<\/jats:p>","DOI":"10.1159\/000468642","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T17:20:59Z","timestamp":1502472059000},"page":"321-329","source":"Crossref","is-referenced-by-count":11,"title":["Combined 3-Methylglutaconic and 3-Hydroxy-\n3-Methylglutaric Aciduria with Endocardial\nFibroelastosis and Dilatative Cardiomyopathy in\nMale and Female Siblings with Partial Deficiency\nof Complex ll\/lll in Fibroblasts"],"prefix":"10.1159","author":[{"given":"Sibylle","family":"Ruesch","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephan","family":"Kr\u00e4henb\u00fchl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Kleinle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Liechti-Gallati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Schaffner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bendicht","family":"Wermuth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jann","family":"Weber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrich N.","family":"Wiesmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2017,8,11]]},"container-title":["Enzyme and Protein"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000468642","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T11:56:24Z","timestamp":1777550184000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000468642"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,11]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000468642","archive":["Portico"],"relation":{},"ISSN":["1019-6773","2504-2556"],"issn-type":[{"value":"1019-6773","type":"print"},{"value":"2504-2556","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,11]]}}}