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

We report one of the youngest neonates with early-onset MA diagnosed promptly, caused by the novel homozygous <i>MVK</i> variant, c.928G>A (p.Val310Met), and expand the genotypic and clinical phenotypic spectrum of <i>MVK</i> variants related with MA.

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Publication Details

Journal
Frontiers in Immunology
Published
2026-03-05
DOI
https://doi.org/10.3389/fimmu.2026.1773017
Primary Topic
Inflammasome and immune disorders
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Wujuan Shi, Shanshan Xue, Lihong Hao, Xiaobo He
Frontiers in Immunology
Inflammasome and immune disorders
article

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

Wujuan Shi, Shanshan Xue, Lihong Hao, Xiaobo He
article en

Abstract

We report one of the youngest neonates with early-onset MA diagnosed promptly, caused by the novel homozygous <i>MVK</i> variant, c.928G>A (p.Val310Met), and expand the genotypic and clinical phenotypic spectrum of <i>MVK</i> variants related with MA.

Frontiers in ImmunologyVol. 17
Tianjin Children's Hospital (CN)
Natural Science Foundation of Tianjin City
Good health and well-being
Openalex Percentile: Top 32%
Inflammasome and immune disorders
DOIOpen Access PDFOpenAlex
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