A Diagnostic Odyssey: Mevalonate Kinase Deficiency Revealed by Genetic Testing in Adulthood
variants consistent with compound heterozygous MKD, supported by elevated serum IgD levels and a characteristic clinical phenotype. This case illustrates the essential role of molecular genetic testing in resolving prolonged diagnostic odyssey, in guiding surveillance for complications such as AA amyloidosis, and enabling targeted therapeutic strategies.
Authors
- Constance Jensina de Saint-Aubain
- Konstantin N. Konstantinov (ORCID: https://orcid.org/0000-0002-9641-6881)
- Vijayalakshmi Kumar (ORCID: https://orcid.org/0009-0001-5694-9130)
Institutions
- Statistics Denmark (DK)
- University of New Mexico (US)
- Raymond G. Murphy VA Medical Center (US)
Publication Details
- Journal
- Genes
- Published
- 2026-04-11
- DOI
- https://doi.org/10.3390/genes17040439
- Primary Topic
- Inflammasome and immune disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00