Mevalonic Aciduria in a Child Featuring Hepatic Fibrosis and Novel Mevalonate Kinase Mutations
M. Harel-Meir, Y. Bujanover*, Y. Berkun, Y. Anikster, Y. Anikster
Identifiers and Pagination:Year: 2009
First Page: 45
Last Page: 47
Publisher Id: TOPEDJ-3-45
Article History:Received Date: 11/03/2009
Revision Received Date: 26/03/2009
Acceptance Date: 22/04/2009
Electronic publication date: 3/6/2009
Collection year: 2009
open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Mevalonic aciduria (MVA) is an inborn error of isoprene biosynthesis caused by mevalonate kinase (MVK) gene mutations. Described below is a case of a Palestinian MVA patient suffering from prolonged fevers as well as from hepatic fibrosis - a rare feature of MVA. Also demonstrated is a unique genotype - heterozigosity of two novel MVK mutations; V8F (t25a), and F38I (t112a).