ArticleHuman genome variation2026
Post-mortem diagnosis of CACT deficiency with a novel SLC25A20 variant.
Article in Human genome variation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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11 authors.
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Abstract
Carnitine-acylcarnitine translocase deficiency is a severe neonatal metabolic disorder caused by SLC25A20 variants. We report a case of sudden neonatal death in which post-mortem CT revealed diffuse fatty liver, and subsequent genetic analysis identified compound heterozygous variants in SLC25A20, including a known variant, c.824G>A p.(Arg275Gln), and a novel nonsense variant, c.334C>T p.(Gln112Ter). These findings demonstrate the utility of post-mortem genetic analysis in determining the cause of sudden neonatal death.
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