Cholic acid therapy in Zellweger spectrum disorders.

ABSTRACT:

Introduction

Zellweger spectrum disorders (ZSDs) are characterized by a failure in peroxisome formation, caused by autosomal recessive mutations in different PEX genes. At least some of the progressive and irreversible clinical abnormalities in patients with a ZSD, particularly liver dysfunction, are likely caused by the accumulation of toxic bile acid intermediates. We investigated whether cholic acid supplementation can suppress bile acid synthesis, reduce accumulation of toxic bile acid intermediates and improve liver function in these patients.

Methods

An open label, pretest-posttest design study was conducted including 19 patients with a ZSD. Participants were followed longitudinally during a period of 2.5 years prior to the start of the intervention. Subsequently, all

SUBMITTER: Berendse K 

PROVIDER: S-EPMC5065608 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature