RESEARCH ARTICLE
Mevalonic Aciduria in a Child Featuring Hepatic Fibrosis and Novel Mevalonate Kinase Mutations
M. Harel-Meir, Y. Bujanover*, Y. Berkun, Y. Anikster, Y. Anikster
Department of Pediatrics,
Safra Children's Hospital, B Sheba Medical Center, Tel Hashomer, Ramat
Gan 52621, Israel.
Article Information
Identifiers and Pagination:
Year: 2009Volume: 3
First Page: 45
Last Page: 47
Publisher Id: TOPEDJ-3-45
DOI: 10.2174/1874309900903010045
Article History:
Received Date: 11/03/2009Revision Received Date: 26/03/2009
Acceptance Date: 22/04/2009
Electronic publication date: 3/6/2009
Collection year: 2009
© 2009 Harel-Meir et al.
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.
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.
Abstract
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).
