{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T07:05:18Z","timestamp":1784099118836,"version":"3.55.0"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T00:00:00Z","timestamp":1784073600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>\n                    Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disorder caused by mevalonate kinase (\n                    <jats:italic>MVK<\/jats:italic>\n                    ) gene mutations, with phenotypes ranging from mild hyper-IgD syndrome (HIDS) to severe mevalonic aciduria (MA). Here, we report a 7-month-old Chinese male infant presenting with neonatal-onset MA. The proband presented with growth retardation, intractable diarrhea, recurrent fever, generalized rash, progressive hepatosplenomegaly, and persistent systemic inflammation. Laboratory tests revealed marked leukocytosis, elevated C-reactive protein, hyper-IgD and increased urinary mevalonic acid. Whole-exome sequencing identified two novel compound heterozygous\n                    <jats:italic>MVK<\/jats:italic>\n                    variants: c.64G\u2009&amp;gt;\u2009A (p.Val22Met) and c.1063G\u2009&amp;gt;\u2009C (p.Ala355Pro). Both variants were absent in global population databases. In silico analyses, including cross-species conservation, structural modeling, and pathogenicity prediction, confirmed significant structural perturbations. The patient achieved sustained remission with canakinumab. This is the first worldwide report of the\n                    <jats:italic>MVK<\/jats:italic>\n                    c.1063G\u2009&amp;gt;\u2009C variant causing severe MA, expanding the\n                    <jats:italic>MVK<\/jats:italic>\n                    mutational spectrum in Chinese populations.\n                  <\/jats:p>","DOI":"10.3389\/fped.2026.1887937","type":"journal-article","created":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T06:10:49Z","timestamp":1784095849000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel compound heterozygous MVK variants cause early-onset mevalonic aciduria in a Chinese infant"],"prefix":"10.3389","volume":"14","author":[{"given":"Na","family":"Li","sequence":"first","affiliation":[{"name":"Dermatology Department, Jinan Central Hospital","place":["Jinan, Shandong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weining","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology, The Affiliated Hospital of Shandong University of Traditional Chinese Medicine","place":["Jinan, Shandong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HongXia","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital)","place":["Jinan, Shandong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingcui","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital)","place":["Jinan, Shandong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,7,15]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"2795","DOI":"10.1002\/art.39763","article-title":"The phenotype and genotype of mevalonate kinase deficiency: a series of 114 cases from the eurofever registry","volume":"68","author":"ter Haar","year":"2016","journal-title":"Arthritis Rheumatol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"167177","DOI":"10.1016\/j.bbadis.2024.167177","article-title":"Molecular and cellular consequences of mevalonate kinase deficiency","volume":"1870","author":"Politiek","year":"2024","journal-title":"Biochim Biophys Acta Mol Basis Dis"},{"key":"B3","doi-asserted-by":"publisher","first-page":"724991","DOI":"10.3389\/fimmu.2021.724991","article-title":"Compromised protein prenylation as pathogenic mechanism in mevalonate kinase 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