Long-Term Cholic Acid Therapy in Zellweger Spectrum Disorders.

ABSTRACT: Zellweger spectrum disorders (ZSDs), a subgroup of peroxisomal biogenesis disorders, have a generalized defect in peroxisome function. Liver disease in ZSDs has been linked to accumulation of C₂₇-bile acid intermediates due to the lack of peroxisomal β-oxidation of these intermediates to form primary C₂₄-bile acids. Oral treatment with primary bile acid, cholic acid (CA), inhibits formation of hepatotoxic C₂₇-bile acids by restoring normal physiologic feedback inhibition on bile acid synthesis. We present the long-term CA treatment and liver-related outcomes for 3 pediatric patients with ZSDs who have received CA treatment for ≥15 years. Ongoing CA treatment was associated with stabilized liver function, as shown by serum biochemistries and liver histopatho

SUBMITTER: Heubi JE 

PROVIDER: S-EPMC6062720 | biostudies-literature | 2018 May-Aug

REPOSITORIES: biostudies-literature