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Article

Evolutionary hypothesis of the Mevalonate Kinase Deficiency.

Medical hypotheses - 1 Jan 2013

Vuch J, Marcuzzi A, Bianco A M, Tommasini A, Zanin V, Crovella S

Abstract excerpt

Mevalonate Kinase Deficiency (MKD) is an autosomal-recessively inherited disorder of cholesterol biosynthesis with higher prevalence in the Netherlands and other North European countries. MKD is due to mutations in the second enzyme of mevalonate pathway (mevalonate kinase, MK/MVK) which results in reduced enzymatic activity and in the consequent shortage of downstream compounds. In most severe cases the...

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Source

Identifiers

PMID: 23168296
DOI: 10.1016/j.mehy.2012.10.016

Genes

MVK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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