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Article

Case Report: Early-onset mevalonic aciduria in neonates with inflammatory marker elevated.

Frontiers in immunology - 1 Jan 2026

Xue Shanshan, Shi Wujuan, He Xiaobo, Hao Lihong

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41869348
DOI: 10.3389/fimmu.2026.1773017
PMCID: PMC12999955

Genes

MVK

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