CASE REPORT article
Front. Immunol.
Sec. Autoimmune and Autoinflammatory Disorders : Autoimmune Disorders
This article is part of the Research TopicThe Role of Innate Immunity in the Pathogenesis of Autoimmune and Autoinflammatory DiseasesView all 14 articles
Early-onset mevalonic aciduria in neonates with inflammatory marker elevated
Provisionally accepted
- Tianjin Children's Hospital, Tianjin, China
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Purpose: 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 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 MVK gene. To date, only 16 neonate cases of MA have been reported in the literature. Affected individuals typically present recurrent fever, hepatosplenomegaly, lymphadenopathy, vomiting, diarrhea, and neurological damage symptoms. This case emphasizes that in patients presenting with recurrent fever accompanied by vomiting, diarrhea, hepatosplenomegaly, and lymphadenopathy, clinicians should pay close attention to differentiating MA from infectious diseases and autoinflammatory disorders to avoid misdiagnosis or underdiagnosis. Conclusion: We report one of the youngest neonate with early onset MA diagnosed promptly, caused by the novel homozygous MVK variant, c.928G>A (p.Val310Met), and expand the genotypic and clinical phenotypic spectrum of MVK variants related with MA.
Keywords: Inflammatory markers, mevalonae kinase, Mevalonic aciduria, neonate, Whole-genome sequencing
Received: 22 Dec 2025; Accepted: 16 Feb 2026.
Copyright: © 2026 Shi, He, Xue and Hao. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Shanshan Xue
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