The Open Pediatric Medicine Journal

2009, 3 : 45-47
Published online 2009 June 3. DOI: 10.2174/1874309900903010045
Publisher ID: TOPEDJ-3-45

Mevalonic Aciduria in a Child Featuring Hepatic Fibrosis and Novel Mevalonate Kinase Mutations

M. Harel-Meir , Y. Bujanover , Y. Berkun , Y. Anikster and Y. Anikster
Department of Pediatrics, Safra Children's Hospital, B Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel.

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).