ReviewOrphanet journal of rare diseases2006
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.
Review in Orphanet journal of rare diseases, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
65 citing papers in PubMed, 179 citations in OpenAlex.
- Review
- Mevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report.Journal of medical case reports · 2025Article
- Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.Pediatric rheumatology online journal · 2025Article
- Case Report: Clinical application of anFrontiers in pediatrics · 2025Article
- TNF inhibitors target a mevalonate metabolite/TRPM2/calcium signaling axis in neutrophils to dampen vasculitis in Behçet's disease.Nature communications · 2024Article
- Tocilizumab effectively reduces flares of hyperimmunoglobulin D syndrome in children: Three cases in China.Molecular genetics and metabolism reports · 2024Article
- Identification of novel targets associated with cholesterol metabolism in nonalcoholic fatty liver disease: a comprehensive study using Mendelian randomization combined with transcriptome analysis.Frontiers in genetics · 2024Article
- What General Neurologists Should Know about Autoinflammatory Syndromes?Brain sciences · 2023Review
- A case of neonatal sweet syndrome associated with mevalonate kinase deficiency.Pediatric rheumatology online journal · 2023Article
- Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects.Molecular genetics and metabolism · 2023Review
- Current Evidence on Vaccinations in Pediatric and Adult Patients with Systemic Autoinflammatory Diseases.Vaccines · 2023Review
- Autoinflammatory manifestations in adult patients.Clinical and experimental immunology · 2022Article
- Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency.The Journal of clinical investigation · 2022Article
- Article
- An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment.Molecular syndromology · 2022Article
- Activation of the plant mevalonate pathway by extracellular ATP.Nature communications · 2022Article
- Trained immunity as a possible newcomer in autoinflammatory and autoimmune diseases pathophysiology.Frontiers in medicine · 2022Review
- Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report.Pediatric rheumatology online journal · 2021Article
- The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis.Orphanet journal of rare diseases · 2021Article
- Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis.International journal of environmental research and public health · 2021Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis. At least 30 patients with MVA and 180 patients with HIDS have been reported worldwide. MVA is characterized by psychomotor retardation, failure to thrive, progressive cerebellar ataxia, dysmorphic features, progressive visual impairment and recurrent febrile crises. The febrile episodes are commonly accompanied by hepatosplenomegaly, lymphadenopathy, abdominal symptoms, arthralgia and skin rashes. Life expectancy is often compromised. In HIDS, only febrile attacks are present, but a subgroup of patients may also develop neurological abnormalities of varying degree such as mental retardation, ataxia, ocular symptoms and epilepsy. A reduced activity of MVK and pathogenic mutations in the MVK gene have been demonstrated as the common genetic basis in both disorders. In MVA, the diagnosis is established by detection of highly elevated levels of mevalonic acid excreted in urine. Increased levels of immunoglobulin D (IgD) and, in most patients of immunoglobulin A (IgA), in combination with enhanced excretion of mevalonic acid provide strong evidence for HIDS. The diagnosis is confirmed by low activity of mevalonate kinase or by demonstration of disease-causing mutations. Genetic counseling should be offered to families at risk. There is no established successful treatment for MVA. Simvastatin, an inhibitor of HMG-CoA reductase, and anakinra have been shown to have beneficial effect in HIDS.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.