{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T17:23:30Z","timestamp":1782840210342,"version":"3.54.5"},"reference-count":11,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,6,16]],"date-time":"2022-06-16T00:00:00Z","timestamp":1655337600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100005685","name":"Department of Genetics, University of Alabama at Birmingham","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005685","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cardiomyopathy is a known complication of organic acidemias but generally thought to be secondary to poor metabolic control.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Our patient was found through biochemical testing and Sanger sequencing to harbor an Icelandic founder mutation: NM_052845.4(MMAB):c.571C\u2009&gt;\u2009T(p.Arg191Trp), leading to an early presentation (4\u2009h after birth) of cblB\u2010type methylmalonic acidemia (MMA). Biochemical testing of this patient suggested B\u201012\u2010responsiveness and thus the patient was treated with cyanocobalamin throughout life. Informed parental consent was obtained for this report.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our patient had three metabolic decompensations in her life (at birth, at 1 month, and at 5 months). The first decompensation was probably linked to stress of delivery, second to rhinovirus infection, and third by co\u2010infection of norovirus and enterovirus. At 3 months, the patient was noted to be tachypneic, although this was attributed to her underlying metabolic acidosis. At 5 months and 10\u2009days, the patient was admitted with minor flu\u2010like symptoms but developed severe diarrhea in hospital and upon rehydration had cardiac decompensation and was found to have undiagnosed dilated cardiomyopathy. Although, patient was treated aggressively with dextrose, hemodialysis, levocarnitine, and vasoactive agents, there was limited response to medications to treat cardiac failure, and eventually the patient passed away before turning 6 months old.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Other than these three mild decompensations, patient had very good metabolic control, thus demonstrating that even without frequent metabolic decompensation, cardiomyopathy can be an observed phenotype in cblB\u2010type MMA even very early in life, suggesting that this phenotype may be independent of metabolic control.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1971","type":"journal-article","created":{"date-parts":[[2022,6,17]],"date-time":"2022-06-17T06:44:20Z","timestamp":1655448260000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Early cardiomyopathy without severe metabolic dysregulation in a patient with <scp>cblB<\/scp>\u2010type methylmalonic acidemia"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9311-620X","authenticated-orcid":false,"given":"Dagbj\u00f6rt","family":"Agnarsd\u00f3ttir","sequence":"first","affiliation":[{"name":"Department of Genetics and Molecular Medicine Landspitali University Hospital  Reykjavik Iceland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vaka Krist\u00edn","family":"Sigurj\u00f3nsd\u00f3ttir","sequence":"additional","affiliation":[{"name":"Hringurinn, Childrens Hospital Landspitali University Hospital  Reykjavik Iceland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2300-8702","authenticated-orcid":false,"given":"Arna Rut","family":"Emilsd\u00f3ttir","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Medicine Landspitali University Hospital  Reykjavik Iceland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erna","family":"Petersen","sequence":"additional","affiliation":[{"name":"Department of Nutrition Landspitali University Hospital  Reykjavik Iceland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gunnlaugur","family":"Sigf\u00fasson","sequence":"additional","affiliation":[{"name":"Hringurinn, Childrens Hospital Landspitali University Hospital  Reykjavik Iceland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ing\u00f3lfur","family":"R\u00f6gnvaldsson","sequence":"additional","affiliation":[{"name":"Hringurinn, Childrens Hospital Landspitali University Hospital  Reykjavik Iceland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leifur","family":"Franzson","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Medicine Landspitali University Hospital  Reykjavik Iceland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilary","family":"Vernon","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans Tomas","family":"Bjornsson","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Medicine Landspitali University Hospital  Reykjavik Iceland"},{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University  Baltimore Maryland USA"},{"name":"Faculty of Medicine University of Iceland  Reykjavik Iceland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,6,16]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0130-8"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2218"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010021\u201002398\u20106"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000422"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/jalm\/jfz001"},{"key":"e_1_2_10_7_1","volume-title":"Isolated methylmalonic acidemia","author":"Manoli I.","year":"2016"},{"key":"e_1_2_10_8_1","unstructured":"Online Mendelian Inheritance in Man OMIM\u00ae. 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