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.


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© 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.

* Address correspondence to this author at the Department of Pediatrics, Safra Children's Hospital, B Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel; E-mail: bujyoram@netvision.net.il


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).