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Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.

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Title: Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.
Authors: Furuta Y; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Rives LC; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Burrow TA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, College of Medicine, Little Rock, Arkansas, USA., Cassini TA; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Tinker RJ; Department of Medical Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Robertson AK; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Ezell KM; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Hamid R; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Cogan JD; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Phillips JA 3rd; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Apr 27. Date of Electronic Publication: 2026 Apr 27.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.
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  Data: <searchLink fieldCode="AU" term="%22Furuta+Y%22">Furuta Y</searchLink>; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.<br /><searchLink fieldCode="AU" term="%22Rives+LC%22">Rives LC</searchLink>; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.<br /><searchLink fieldCode="AU" term="%22Burrow+TA%22">Burrow TA</searchLink>; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, College of Medicine, Little Rock, Arkansas, USA.<br /><searchLink fieldCode="AU" term="%22Cassini+TA%22">Cassini TA</searchLink>; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.<br /><searchLink fieldCode="AU" term="%22Tinker+RJ%22">Tinker RJ</searchLink>; Department of Medical Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Robertson+AK%22">Robertson AK</searchLink>; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.<br /><searchLink fieldCode="AU" term="%22Ezell+KM%22">Ezell KM</searchLink>; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.<br /><searchLink fieldCode="AU" term="%22Hamid+R%22">Hamid R</searchLink>; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.<br /><searchLink fieldCode="AU" term="%22Cogan+JD%22">Cogan JD</searchLink>; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.<br /><searchLink fieldCode="AU" term="%22Phillips+JA+3rd%22">Phillips JA 3rd</searchLink>; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2026 Apr 27. <i>Date of Electronic Publication: </i>2026 Apr 27.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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        Value: 10.1002/ajmg.a.70172
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        Text: English
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      – TitleFull: Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.
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              Text: 2026 Apr 27
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