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We describe a patient identified through newborn screening in which the diagnosis of MADD was confirmed based on metabolic profiling, but clinical molecular sequencing of <jats:italic>ETFA<\/jats:italic>, <jats:italic>ETFB<\/jats:italic>, and <jats:italic>ETFDH<\/jats:italic> was normal. In order to identify the genetic etiology of MADD, we performed whole genome sequencing and identified a novel homozygous promoter variant in <jats:italic>ETFA<\/jats:italic> (c.\u201085G\u2009&gt;\u2009A). Subsequent studies showed decreased ETFA protein expression in lymphoblasts. A promoter luciferase assay confirmed decreased activity of the mutant promoter. In both assays, the variant displayed considerable residual activity, therefore we speculate that our patient may have a late onset form of MADD (Type III). Our findings may be helpful in establishing a molecular diagnosis in other MADD patients with a characteristic biochemical profile but apparently normal molecular studies.<\/jats:p>","DOI":"10.1002\/ajmg.a.63104","type":"journal-article","created":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T07:50:11Z","timestamp":1672300211000},"page":"1089-1093","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A novel deleterious <scp><i>ETFA<\/i><\/scp> promoter variant causative of multiple <scp>acyl\u2010CoA<\/scp> dehydrogenase deficiency"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5949-6421","authenticated-orcid":false,"given":"Pankaj","family":"Prasun","sequence":"first","affiliation":[{"name":"Department of Genetics &amp; Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"Evans","sequence":"additional","affiliation":[{"name":"Department of Genetics &amp; Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emalyn","family":"Cork","sequence":"additional","affiliation":[{"name":"Department of Genetics &amp; Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sander M.","family":"Houten","sequence":"additional","affiliation":[{"name":"Department of Genetics &amp; Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6174-4677","authenticated-orcid":false,"given":"Bryn D.","family":"Webb","sequence":"additional","affiliation":[{"name":"Department of Genetics &amp; Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"},{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of Wisconsin School of Medicine and Public Health  Madison Wisconsin USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,12,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-020-0966-5"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12058"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9950-0"},{"key":"e_1_2_6_5_1","first-page":"2357","volume-title":"The metabolic and molecular bases of inherited diseases","author":"Frerman F. 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