Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Diagnostic Odyssey: Mevalonate Kinase Deficiency Revealed by Genetic Testing in Adulthood.

Genes - 11 Apr 2026

Kumar Vijayalakshmi, de Saint-Aubain Constance Jensina, Konstantinov Konstantin N

Abstract excerpt

Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disorder with marked clinical heterogeneity, frequently leading to delayed diagnosis. We describe a 71-year-old woman with lifelong episodic inflammatory symptoms beginning in infancy, including recurrent fevers, lymphadenopathy, and gastrointestinal and mucocutaneous manifestations, later evolving into intermittent arthralgia,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to MVK gene
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunoglobulin D

Share to Mevalonate Kinase Deficiency

Share to Mutation, Missense

Share to Phenotype

Share to Phosphotransferases (Alcohol Group Acceptor)

Source

Open in PubMed Open full text

Identifiers

PMID: 42074557
DOI: 10.3390/genes17040439
PMCID: PMC13116159

Genes

MVK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Diagnostic Odyssey: Mevalonate Kinase Deficiency Revealed by Genetic Testing in Adulthood.PMID 42074557Read ↗

The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.Semantic proximity Read ↗

Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report.Semantic proximity Read ↗

AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature.Semantic proximity Read ↗

A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency.Semantic proximity Read ↗

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduriaSemantic proximity Read ↗

Phenotype-genotype correlation and treatment outcomes in mevalonate kinase deficiency: A large Turkish cohort.Semantic proximity Read ↗

Mevalonate kinase deficiency: current perspectivesSemantic proximity Read ↗

Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency.Semantic proximity Read ↗

Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.Semantic proximity Read ↗

A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper-IgD syndrome-like phenotype.Semantic proximity Read ↗

Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children.Semantic proximity Read ↗

Hyper-immunoglobulin D syndrome with novel mutations in an afebrile infant.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.