{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T06:45:41Z","timestamp":1770965141504,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,6,30]],"date-time":"2020-06-30T00:00:00Z","timestamp":1593475200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Malonic aciduria (MA, OMIM#248360) is an extremely rare inherited metabolic disorder caused by the deficiency of malonyl\u2010CoA decarboxylase. The phenotype exhibited by patients with MA is variable, but may include symptoms, such as developmental delay in early childhood, seizures, vomiting, metabolic acidosis, hypoglycemia, ketosis, and cardiomyopathy. We describe the first case of a Korean child with MA who presented with dilated cardiomyopathy (DCMP) at the age of 3\u00a0months.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and Results<\/jats:title><jats:p>A 3\u2010month\u2010old Korean boy visited our hospital for diagnosis and management of cardiomegaly. Newborn screening for inherited metabolic diseases showed a normal result; therefore, DCMP management was initiated. Biochemical and the <jats:italic>MLYCD<\/jats:italic> gene analyses subsequently confirmed diagnosis of MA. Elevated plasma C3DC level and excessive excretion of urinary malonate were observed, and two pathogenic variants, including a novel start codon mutation (c.1A&gt;G), were identified in <jats:italic>MLYCD<\/jats:italic>. A low long\u2010chain fat diet with middle\u2010chain triglyceride formula and L\u2010carnitine supplementation was initiated. The patient is now 5\u00a0years old and exhibits considerably improved cardiac function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>MA can be diagnosed using newborn screening; however, negative results do not exclude the possibility of disease. Metabolic screening for differential diagnosis of infantile DCMP is recommended to rule out rare, but manageable, metabolic cardiomyopathies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1379","type":"journal-article","created":{"date-parts":[[2020,6,30]],"date-time":"2020-06-30T09:46:39Z","timestamp":1593510399000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3356-2133","authenticated-orcid":false,"given":"Seung Hoon","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0407-7828","authenticated-orcid":false,"given":"Jung Min","family":"Ko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0529-869X","authenticated-orcid":false,"given":"Mi\u2010Kyoung","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0576-9938","authenticated-orcid":false,"given":"Junghan","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Seoul National University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6714-6619","authenticated-orcid":false,"given":"Kyung Sun","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Kyung Hee University School of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,6,30]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/bf01805615"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2012.10.014"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246\u2010005\u20101045\u2010x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010010\u20109137\u2010z"},{"issue":"3","key":"e_1_2_8_6_1","first-page":"77","article-title":"10\u2010Year analysis of inherited metabolic diseases diagnosed with tandem mass spectrometry","volume":"17","author":"Lee B.","year":"2017","journal-title":"Journal of the Korean Society of Inherited Metabolic Disease"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37590"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432\u20101033.1997.00001.x"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.4103\/2277\u20109175.188489"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1373\/49.4.660"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.01052"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.09.007"}],"container-title":["Molecular Genetics &amp; 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