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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...

Topics

Biological Evolution
Cholesterol
Diet, High-Fat
Europe
Genes, Recessive
Genetic Predisposition to Disease
Humans
Mevalonate Kinase Deficiency
Models, Biological
Mutation
Phosphotransferases (Alcohol Group Acceptor)

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Selection, Genetic

Source

Identifiers

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

Genes

MVK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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