ArticleFrontiers in immunology2026
Case Report: Early-onset mevalonic aciduria in neonates with inflammatory marker elevated.
Article in Frontiers in immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Novel compound heterozygous MVK variants cause early-onset mevalonic aciduria in a Chinese infant.Frontiers in pediatrics · 2026Article
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4 authors.
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Abstract
Purpose: The aim of this study was to present a case of early-onset mevalonic aciduria (MA) in a neonate and summarize the relevant phenotypic and genotypic spectra of MA. Methods and results: We describe a neonate who presented with elevated inflammatory marker after birth. Liver function tests revealed liver injury, and enzyme-linked immunosorbent assay (ELISA) confirmed increased mevalonic acid levels in blood and urine. Whole-genome sequencing identified a novel homozygous mutation (c.928G>A, p.Val310Met) in the Conclusion: We report one of the youngest neonates with early-onset MA diagnosed promptly, caused by the novel homozygous
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