CASE REPORT article

Front. Immunol., 05 March 2026

Sec. Autoimmune and Autoinflammatory Disorders : Autoimmune Disorders

Volume 17 - 2026 | https://doi.org/10.3389/fimmu.2026.1773017

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

  • 1. Department of Neonatology, Tianjin Children’s Hospital, Tianjin, China

  • 2. Department of Neonatology, Children’s Hospital, Tianjin University, Tianjin, China

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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 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 neonates 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.

Introduction

Infection is the most common cause of elevated inflammatory markers and/or fever in neonates. Meanwhile, a systemic inflammatory response may also result from various non-infectious conditions, such as perinatal asphyxia, meconium aspiration syndrome (MAS), or surgery. The clinical manifestations of inflammation can usually be resolved with the early initiation of appropriate antibiotic therapy. When a neonate presents with chronic or recurrent systemic inflammation, autoinflammatory diseases (AIDs) should be considered because of their potentially devastating consequences. Mevalonic aciduria (MA) is one of the classical monogenic hereditary AIDs characterized by recurrent fever, hepatosplenomegaly, lymphadenopathy, vomiting, diarrhea, and neurological impairment, which is presumably associated with mevalonate kinase (MVK) gene mutations (1). These phenotypes belong to heterogeneous clinical manifestations of AIDs, resulting from pathogenic variations in genes of the innate immune system. The limited characterization of neonatal-onset MA coupled with its frequent clinical overlap with neonatal infections makes it difficult to avoid misdiagnosis or underdiagnosis. Herein, we report a case of MA presenting at birth with mild symptoms and signs suggestive for perinatal infection. This report aims to further expand existing knowledge by presenting clinical manifestations of early-onset MA in neonates and integrating the relevant phenotypic and genotypic spectra of MA.

Case presentation

The patient was a male neonate born at 384/7 weeks’ gestation via vaginal delivery at an external hospital. He was admitted to the neonatal intensive care unit (NICU) due to mild asphyxia at birth, with Apgar scores of 7 (1 min) - 7 (5 min) - 9 (10 min). Gentle oropharyngeal and nasal meconium suctioning was performed using a bulb syringe, and resuscitation was successful with subsequent positive pressure ventilation. Unfortunately, cord blood gas results were not available. On postnatal day 1, the neonate developed a fever of 37.8°C, accompanied by an elevated C-reactive protein (CRP) level (29.39 mg/L) and thrombocytopenia (78 × 109/L). These findings were initially attributed to neonatal sepsis secondary to MAS, and antibiotic therapy was therefore initiated. On day 4 of antibiotic administration, the neonate achieved afebrile status and the CRP level decreased to 15.2 mg/L, indicating a partial response to the treatment. Antibiotic therapy was subsequently discontinued after a 7-day course. However, the next day following antibiotic withdrawal, the neonate developed recurrent fever, with the CRP level rebounding to 18.6 mg/L. Given this clinical recurrence, nosocomial infection was clinically suspected, and the neonate was transferred to our hospital.

Upon admission to our hospital, alternative antibiotic regimens were reinitiated. On physical examination, morbilliform rash and petechiae were observed throughout the face and body, along with hepatosplenomegaly (5 cm below the costal margin) and painless lymphadenopathy of the cervical, axillary, and inguinal regions. Hepatosplenomegaly was confirmed by both physical examination and abdominal ultrasound, with the liver and spleen each extending 5 cm below the costal margin. Clinical evaluation, ultrasonography, and standard cranial magnetic resonance imaging (MRI) were performed. Written informed consent for diagnostic genetic testing and publication of clinical information was obtained from the patients’ parents in accordance with the Declaration of Helsinki. Routine blood tests revealed fluctuations in the following parameters: serum CRP (11.35–47.1 mg/L), white blood cell count (11.36–21.39 × 109/L), hemoglobin (62.1–195 g/L), and platelet count (52–189 × 109/L) (Supplementary Figures 1A–C); however, serum procalcitonin levels remained within the normal reference range. Additional laboratory findings were as follows: alanine aminotransferase 173 U/L, aspartate aminotransferase 126 U/L, cholesterol 3.11 mmol/L, triglycerides 2.5 mmol/L, PCT 0.27 ng/mL, erythrocyte sedimentation rate 19 mm/h, and ferritin 765.6 ng/mL. Tests for antinuclear and extractable nuclear antigen antibodies were negative. Cytomegalovirus (CMV) DNA was detected at 1.1 × 10³ copies/mL, whereas the CMV pp65 antigen test result was negative. No other pathogens were identified. Ultrasonography revealed hepatosplenomegaly and lymphadenopathy. Head MRI suggested subdural effusion, left ventricular dilatation, and extracerebral space widening. Lung CT revealed scattered inflammatory consolidation in both lungs. Brainstem auditory evoked potentials revealed abnormalities in the right peripheral segment, consistent with mild-to-moderate, right-sided hearing loss. No abnormalities were detected on the ophthalmological examination.

Despite 2 weeks of treatment with various antibiotics (e.g., cephalosporins, meropenem, and linezolid), the therapeutic response remained unsatisfactory. The neonate persisted with recurrent fever, feeding difficulties, intermittent diarrhea, hepatosplenomegaly, and sustained elevation of inflammatory markers. The patient received twice red blood cell transfusions for anemia management and two doses of intravenous immunoglobulin (IVIG) for presumed refractory infection, whereas no platelet transfusion was administered. After 2 weeks of ineffective antibiotic therapy, an extensive diagnostic workup was initiated. The levels of urinary mevalonic acid were measured by gas chromatography–mass spectrometry (GC-MS; Agilent Technologies Inc. 5975C/7890A, USA) (2), which indicated that the mevalonic acid level in the patient’s urine was 4,750 mM/M creatinine (normal value <0.1 mM/M creatinine). In accordance with the clinical diagnostic criteria for MVK deficiency (MKD) formulated by the European Alliance of Associations for Rheumatology in 2015, the neonate’s clinical manifestations were scored, resulting in a total of 49 points. The scoring breakdown was as follows: age at onset < 2 years (10 points), generalized enlargement of lymph nodes or splenomegaly (8 points), intermittent diarrhea (20 points), and absence of chest pain (11 points) (3). The clinical diagnosis of MKD was suspected.

Previous studies have reported that mildly increased mevalonic acid excretion is observed in patients with the hyperimmunoglobulin D syndrome phenotype during febrile episodes, whereas severely affected patients with MA exhibit relatively low mevalonic acid excretion (4, 5). Therefore, the concurrent initiation of enzyme-linked immunosorbent assay (ELISA) and whole-genome sequencing (WGS) were performed for the confirmation of final diagnosis. ELISA results were available 2 days prior to genetic testing. Serum and urinary mevalonic acid levels were measured with the Human MVA ELISA Kit (Wuhan Mosak Biotechnology Co., Ltd., Wuhan, China). ELISA results demonstrated significantly elevated levels of mevalonic acid and mevalonolactone in both blood and urine, while MVK enzyme activity was reduced and immunoglobulin D (IgD) level was normal. The mevalonic acid levels in blood and urine were 425 and 390 ng/mL, respectively, which were both significantly higher than those of his parents (normal value <10 ng/mL). Peripheral blood samples were collected from the neonate and his parents, and WGS was performed using a high-throughput sequencing platform (MyGenostics, Beijing, China). Briefly, genomic DNA was fragmented, and sequencing libraries were constructed. Subsequently, DNA from the exonic regions and adjacent splice regions of target genes was captured and enriched with the GenCap custom enrichment kit (MyGenostics, Beijing, China) in accordance with the manufacturer’s protocol. Finally, the enriched libraries were sequenced on an Illumina NovaSeq 6000 sequencer (Illumina, San Diego, CA, USA) for paired-end reads of 150 bp. The quality control metrics of the sequencing data were as follows: the average sequencing depth of the target region was 49.11 Mb, and the proportion of loci with an average depth of >100× in the target region was 96.53% (10×) and 92.91% (20×). WGS and Sanger sequencing identified a homozygous mutation (c.928G>A, p.Val310Met) in the MVK gene, and his parents were found to carry a heterozygous variation at this locus (Supplementary Figures 2 A–C). According to the interpretation guidelines of the American College of Medical Genetics and Genomics, this variant was classified as pathogenic (PM1 + PM2 + PM3_Strong + PM5 + PP3).

After confirmation of the final diagnosis, the patient received adequate nutritional support with a deeply hydrolyzed protein formula, combined with symptomatic and supportive care. These included hepatoprotective therapy with glucurolactone and bicyclol to improve liver function, smectite for intestinal mucosal protection, probiotics for intestinal flora regulation, and vitamin K1 supplementation, all aimed at maintaining stable internal homeostasis. Additionally, glucocorticoid therapy with prednisone acetate (0.91 mg/kg/day) was initiated and continued for 7 days. Following this intervention, the patient’s body temperature normalized, liver function improved, and rash dissipated. However, inflammatory markers demonstrated recurrent elevation, and the patient exhibited poor weight gain. During the 67-day period of intermittent antibiotic therapy, the neonate presented with symptoms of hereditary recurrent fever, poor feeding, intermittent diarrhea, and drowsiness. The neonate was hospitalized and designated as patient 11 (Table 1).

Table 1

PatientP1P2P3P4P5P6P7P8P9P10P11P12P13P14P15P16P17
OriginGermanyGermanyChinaItalyNew ZealandGermanyMoroccoGermanyMoroccanAmericaChinaSpainItalyAmericaGermanyFrance
SexFMMMMMFMFFMMMFMFF
cDNAc.1000G>A, c.643C>Tc.1000G>A, c.72dupTc.78G>A, c.463G>Ac.60T>A, c.60T>Ac.59A>C, c.1000G>Ac.709A>T, c.803T>Cc.803T>C, c.803T>Cc.1000G>A, c.59A>Cc.709A>T, c.709A>T,c.803T>C, c.928G>Ac.928G>A, c.928G>Ac.803T>C, c.803T>Cc.1006G>A, c.10006>Ac.889C>A, c.889C>Ac.1162C>T,c.803T>CNANA
protein changep.(Ala334Thr),p.(Arg215*)p.(Ala334Thr),p.(Gly25Trpfs*55)p.(Lys26Lys),p.(Ala155Thr)p.(His20Gln),p.(His20Gln)p.(His20Pro),p.(Ala334Thr)p.(Thr237Ser),p.(Ile268Thr)p.(Ile268Thr),p.(Ile268Thr)p.(Ala334Thr),p.(His20Pro)p.(Thr237Ser),p.(Thr237Ser)p.(Ile268Thr),p.(Val310Met)p.(Val310Met),p.(Val310Met)p.(Ile268Thr),p.(Ile268Thr)p.(Gly336Ser),p.(Ala334Thr) p.(Leu297Ile),p.(Leu297Ile)p.(Arg388*),p.(Ile268Thr*)NANA
Clinical features
Age at onsetfetus at 29 weeks2 weeks0.5 month0 month0 month0 month0 month0 month5 daysAt birthAt birth0 month10 daysprenatalAt birthAt birth
Age at diagnosisNA5 years32 months1 year8 years1 year0 year48 years36 days2 weeks26 days2 months3.5monthsAt birth1 year3 weeks
OutcomeDied at the age of 4 monthsAlive until 26 yearsAlive until 8 yearsAlive until 16 yearsAlive until 43 yearsAlive until 26 yearsNAAlive until 51 yearsAlive until 6 monthsAliveDied at the age of 3 monthsNADied at the age of 7.5 monthsAlive until 34 monthsDied at the age of 8 weeksAlive until 10 yearsNA
Periodic fever++s++++-+-++++++++
Skin rash+++--+----++--+--
Lymphadenopath-y+++--+----+++----
Hepatosplenomeg-aly+++-+++--++++++++
Joint pain++++--------+----
Digestive tract symptoms (vomiting, diarrhea)+++++--++++++++-+
Neurological symptoms
Developmental retardation++-+++-+-+NA+++++NA
Cerebellar ataxia++--++-+-+NA-+---NA
Hypotonia++-+----++-+----NA
Growth and development
Hypogenesis-+++-+-----+-++++
Short stature--++-+--++-++--++
Ocular symptoms
Retinal degeneration+---++-+---++----
Cataract--+--++--+-++--++
Others
Acute rhabdomyolysis-----------------
Myocardial hypertrophy-----------------
Imaging manifestations
Spinocerebellar ataxia++--+----+-++NANA+NA
Cerebellar agenesia hypoplasia+----++--+-++NANA-NA
Atrophy of the cerebral cortex------+--+---NANA-NA
Intracranial cystic lesions-+----+-+----NANA-NA
Reference1826496328 341456134071708428 34145613341456133414561334145613341456133109603922405037Novel222716962696541831651069231462908352861
(PMID)

Summary of the genotypic and clinical phenotypic data in neonates.

P, patient; -, absent; +, observed; N/A, not available.

Corticosteroid therapy is effective in diminishing the severity of inflammatory attacks but fails to prevent disease crises. Potentially beneficial therapeutic options for the patient included interleukin (IL)-1 receptor antagonists (e.g., anakinra) or tumor necrosis factor-α (TNF-α) inhibitors (e.g., etanercept); however, access to these therapeutic agents was limited in our region. Furthermore, the patient’s parents declined the additional benefit of allogeneic bone marrow transplantation and requested discharge (6). After discharge, the patient suffered from recurrent diarrhea. Unfortunately, the patient’s family declined further medical evaluation and management, and the patient subsequently died at the age of 3 months due to dehydration and electrolyte disturbances.

Discussion and conclusions

To date, 30 cases of MA have been reported worldwide, all of which range from neonates to 51 years of age, and only 16 neonates have been documented in the literature (5, 7–15). The genotypic and clinical phenotypic data of the neonates are summarized in Table 1.

Herein, we report a case of MA in one of the youngest neonates reported to date, characterized by early onset and diagnosis. This case was caused by a novel homozygous variant in the MVK gene, c.928G>A (p.Val310Met), which clinically mimicked neonatal infection. Moreover, the patient presented with normal body temperature after receiving prednisone acetate treatment. Repeatedly elevated inflammatory indicators, abnormal liver function, significant elevated mevalonic acid and mevalonolactone levels, recurrent fever, digestive symptoms, and poor weight gain were observed. No abnormalities were detected on the ophthalmological examination. Additionally, no central nervous system (CNS) involvement was observed in the patient prior to his death. The genotypic and clinical phenotypic spectrum of patients with MA is heterogeneous. Manifestations of the disease seem to be age dependent. A review of neonatal early-onset MA cases revealed that the majority of patients exhibited characteristic features including recurrent fever (15/17), hepatosplenomegaly (14/17), digestive symptoms (14/17), developmental retardation (12/17), neurological impairment (12/15), and abnormal cranial MRI findings (10/14). In approximately 50% of cases, patients presented with lymphadenopathy (7/17), skin rash (7/17), feeding difficulties (9/17), and ocular symptoms (11/17).

This case highlights that when neonates present with recurrent fever accompanied by vomiting, diarrhea, hepatosplenomegaly, and lymphadenopathy, clinicians should pay close attention to differentiating MA from infectious diseases to avoid misdiagnosis or underdiagnosis. A limitation of this case report is the lack of serum IL level assessment, which was attributable to parental preference against this investigative assay. Periodic fever and elevated inflammatory markers are associated with MVK enzyme activity (16). A previous study reported that minor elevations in temperature can set off a chain of events with MVK enzyme activity becoming progressively rate-limiting, leading to a temporary deficiency of isoprenoid end-products, which induces inflammation and fever (17). Lymphadenopathy may be related to the lymphocyte apoptosis defect (18). The potential underlying mechanism is that MA induces a predominance of type 2 helper T cells (Th2), leading to elevated levels of IL-4, IL-5, IL-6, TNF-α, and immunoglobulins (either hyper-IgD or hyper-IgE levels). Furthermore, the Th2 bias induced by MKD may be associated with cell signaling proteins and lipid rafts—assemblages of cholesterol and sphingolipids within the lipid bilayer. Most patients with MA exhibit elevated urinary leukotriene (LT) E4 excretion, which exhibits a positive linear correlation with increased mevalonic acid excretion. This elevation in urinary LTE4 level suggests enhancement of systemic cysteinyl leukotrienes synthesis.

Urinary mevalonic acid levels are used as a tool in the diagnostic process of MKD. The urine sample is collected during febrile episodes because the excretion of mevalonic acid is elevated during febrile episodes. Previous studies have reported that mildly increased mevalonic acid excretion is observed in patients of HIDS during febrile episodes, whereas severely affected patients with MA exhibit relatively low mevalonic acid excretion (4, 5). Therefore, the concurrent initiation of ELISA and WGS combined with Sanger sequencing should be performed for final diagnosis.

No curative drug treatment exists for MA, and individualized symptomatic treatments are primarily administered. Corticosteroid treatment is effective in diminishing the severity of attacks but cannot prevent disease crises. The patient may benefit from treatment with IL-1-receptor antagonists (e.g., anakinra) or TNF-α inhibitors (e.g., etanercept); however, access to these medicines was limited in our city. Hematopoietic stem cell transplantation is an effective treatment option for children who do not respond to drug therapy (6).

The case description further refines the clinical and molecular features of MA to provide a reference for genetic counseling and research on the diagnosis and treatment of this rare syndrome. Further observations and studies are expected to lead to a better understanding of the clinical manifestations related to MVK mutations and the development of translational knowledge that will impact the treatment and prognosis of afflicted patients. Early diagnosis of MA and initiation of effective treatment are crucial, and patients can choose different medications depending on the severity of the disease. This study provides new perspectives and therapeutic directions for targeted drug development and treatment of monogenic diseases.

Statements

Data availability statement

The raw data supporting the conclusions of this article will be made available by the authors, without undue reservation.

Ethics statement

Written informed consent was obtained from the minor(s)’ legal guardian/next of kin for the publication of any potentially identifiable images or data included in this article. Written informed consent was obtained from the participant/patient(s) for the publication of this case report.

Author contributions

WS: Conceptualization, Data curation, Formal analysis, Investigation, Writing – original draft. XH: Data curation, Formal analysis, Investigation, Project administration, Resources, Validation, Writing – review & editing. SX: Conceptualization, Data curation, Formal analysis, Funding acquisition, Project administration, Software, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing. LH: Project administration, Software, Supervision, Visualization, Writing – review & editing.

Funding

The author(s) declared that financial support was received for this work and/or its publication. This research was supported by the Natural Science Foundation of Tianjin (2022KJ272) to Shanshan Xue and funded by the Tianjin Key Medical Discipline Construction Project (TJYXZDXK-3-016B).

Acknowledgments

We thank the patient and his parents.

Conflict of interest

The author(s) declared that this work was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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The author(s) declared that generative AI was not used in the creation of this manuscript.

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Supplementary material

The Supplementary Material for this article can be found online at: https://www.frontiersin.org/articles/10.3389/fimmu.2026.1773017/full#supplementary-material

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Summary

Keywords

inflammatory markers, mevalonate kinase, mevalonic aciduria, neonate, whole-genome sequencing

Citation

Xue S, Shi W, He X and Hao L (2026) Case Report: Early-onset mevalonic aciduria in neonates with inflammatory marker elevated. Front. Immunol. 17:1773017. doi: 10.3389/fimmu.2026.1773017

Received

22 December 2025

Revised

12 February 2026

Accepted

16 February 2026

Published

05 March 2026

Volume

17 - 2026

Edited by

José Luis Maravillas-Montero, National Autonomous University of Mexico, Mexico

Reviewed by

Yanna Cai, Guangzhou Women and Children’s Medical Center, China

Khunton Wichajarn, Khon Kaen University, Thailand

Updates

Copyright

© 2026 Xue, Shi, He 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) and the copyright owner(s) 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,

†These authors have contributed equally to this work

Disclaimer

All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

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