Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Elevated urine mevalonic acid level, Failure to thrive in infancy, and Attenuation of retinal blood vessels and others; and very common findings: Short stature, Low muscle tone (hypotonia), Large fontanelles, and Downslanted palpebral fissures and others. 55 total HPO annotations.

MVK encodes mevalonate kinase (396 aa). Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis Highest expression in Testis (41.6 TPM) and Esophagus Mucosa (40.7 TPM).

Mevalonic aciduria is associated with mutations in the MVK gene on chromosome 12.

The MVK protein participates in SREBP1A,2:NF-Y:SP1:MVK gene and Expression of Mevalonate Kinase (MVK) pathways.

MVK is classified as a druggable target (Enzyme and Kinase categories) with score 8.7.

Genetic testing for MVK is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mevalonic aciduria has been reported in the published literature.

Phenotype severity distribution: 10 always present features, 14 very common features, 17 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

44 publications have been identified in PubMed for mevalonic aciduria. Research spans Case Report / Case Series (45%), Review / Meta-Analysis (18%), and Basic Science / Preclinical (14%).