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We report acute presentation of two patients from unrelated two families with novel homozygous c.862C&gt;T and c.725\u20102A&gt;C mutations, respectively, in <jats:italic>HMGCS2<\/jats:italic> gene. Affected patients had severe hypoketotic hypoglycemia, lethargy, encephalopathy, severe metabolic and lactic acidosis and hepatomegaly after infections. Surprisingly, molecular screening of the second family showed more affected patients without clinical findings. These cases expand the clinic spectrum of this extremely rare disease.<\/jats:p>","DOI":"10.1002\/ajmg.a.61590","type":"journal-article","created":{"date-parts":[[2020,4,7]],"date-time":"2020-04-07T16:13:11Z","timestamp":1586275991000},"page":"1608-1614","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Expanding the clinical spectrum of mitochondrial <scp>3\u2010hydroxy\u20103\u2010methylglutaryl\u2010CoA<\/scp> synthase deficiency with Turkish cases harboring novel <scp><i>HMGCS2<\/i><\/scp> gene mutations and literature review"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1401-5233","authenticated-orcid":false,"given":"Mustafa","family":"K\u0131l\u0131\u00e7","sequence":"first","affiliation":[{"name":"Sami Ulus Children Hospital, Metabolism Unit  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sevil","family":"Dorum","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Metabolism Unit Yuksek Ihtisas Training and Research Hospital  Bursa Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Topak","sequence":"additional","affiliation":[{"name":"Medical Genetic Unit Yuksek Ihtisas Training and Research Hospital  Bursa Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mutlu U.","family":"Yaz\u0131c\u0131","sequence":"additional","affiliation":[{"name":"Sami Ulus Children Hospital, Intensive Care Unit  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatih S.","family":"Ezgu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Metabolism Unit Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Turgay","family":"Coskun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Metabolism Unit Hacettepe University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,4,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0214-2"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100554"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200103000-00005"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(97)00067-X"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2017_59"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI76388"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9704-9"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12051"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-019-1747-5"},{"key":"e_1_2_10_11_1","first-page":"930","article-title":"Mitochondrial 3\u2010hydroxy\u20103\u2010methylglutaryl CoA synthase deficiency: A case report and literature review","volume":"20","author":"Ma D.","year":"2018","journal-title":"Hongguo Dang Dai Er Ke Za Zhi"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-662-49771-5_13"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199809000-00021"},{"issue":"1","key":"e_1_2_10_14_1","first-page":"51","article-title":"Mitochondrial 3\u2010hydroxy\u20103\u2010methyl\u2010glutaryl CoA synthase deficiency may be recognized by increased concentrations of 4\u2010hydroxy\u20106\u2010methyl\u20102\u2010pyrone in urine organic acid analysis","volume":"98","author":"Pitt J. 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