{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T06:20:09Z","timestamp":1783491609307,"version":"3.55.0"},"reference-count":53,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T00:00:00Z","timestamp":1783382400000},"content-version":"vor","delay-in-days":187,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100013220","name":"Ultragenyx Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013220","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Long\u2010chain fatty acid oxidation disorders (LC\u2010FAODs) are characterized by the inability to metabolize long\u2010chain fatty acids. Serious clinical manifestations occur, including cardiomyopathy, hypoglycemia, rhabdomyolysis, and liver failure. Confirming a diagnosis with genetic testing is complicated by the rarity of the disorders, genetic and phenotypic heterogeneity, and the high frequency of variants of uncertain significance. A new locus\u2010specific database for variants in the six genes associated with LC\u2010FAOD was established to collect and disseminate information about disease\u2010associated variants in\n                    <jats:italic>ACADVL<\/jats:italic>\n                    ,\n                    <jats:italic>CPT1A<\/jats:italic>\n                    ,\n                    <jats:italic>CPT2<\/jats:italic>\n                    ,\n                    <jats:italic>HADHA<\/jats:italic>\n                    ,\n                    <jats:italic>HADHB<\/jats:italic>\n                    , and\n                    <jats:italic>SLC25A20<\/jats:italic>\n                    . The database integrates data from a systematic literature review and a sponsored gene panel program with associated clinical and biochemical data. The database was reviewed and curated by an expert panel and stored in MongoDB and MySQL. As of March 2025 (literature review cutoff), the database reports 6947 variants from 4188 individuals with \u2265\u20091 variant in an LC\u2010FAOD gene.\n                    <jats:italic>ACADVL<\/jats:italic>\n                    variants are the most common (40%), followed by\n                    <jats:italic>HADHA<\/jats:italic>\n                    (25%),\n                    <jats:italic>CPT2<\/jats:italic>\n                    (21%),\n                    <jats:italic>CPT1A<\/jats:italic>\n                    and\n                    <jats:italic>HADHB<\/jats:italic>\n                    (5% each), and\n                    <jats:italic>SLC25A20<\/jats:italic>\n                    (4%). Associated phenotypes are reported for 1496 individuals, newborn screening results for 2589, and enzyme activity assays for 499 individuals. Severe outcomes (cardiomyopathy &lt;\u20091 year or death at any age) are reported for 219 individuals with \u2265\u20092 P\/LP LC\u2010FAOD gene variants, and the most common genotype among them is homozygosity for the LCHAD variant,\n                    <jats:italic>HADHA<\/jats:italic>\n                    p.Glu510Gln (\n                    <jats:italic>n<\/jats:italic>\n                    = 48\/219). The LC\u2010FAOD gene database is a comprehensive archive of variants, genotypes, and phenotypes associated with this important group of FAODs. It is open to the greater scientific and LC\u2010FAOD communities through a public website.\n                  <\/jats:p>","DOI":"10.1155\/humu\/6864813","type":"journal-article","created":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T06:05:08Z","timestamp":1783490708000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Long\u2010Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC\u2010FAOD Variants, Genotypes, and Phenotypes"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4081-1073","authenticated-orcid":false,"given":"Heather","family":"Richbourg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6966-2497","authenticated-orcid":false,"given":"Vanessa","family":"Rangel 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