Long-Term Cholic Acid Therapy in Zellweger Spectrum Disorders

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 C 27 -bile acid intermediates due to the lack of peroxisomal β-oxidation of these intermediates to form prim...

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Bibliographic Details
Published in:Case reports in gastroenterology 2018-05, Vol.12 (2), p.360-372
Main Authors: Heubi, James E., Setchell, Kenneth D.R., Bove, Kevin E.
Format: Article
Language:English
Subjects:
Age
Bile
Bile acid synthesis
Biopsy
Biosynthesis
Case reports
Case Series
Cholic acid
Enzymes
Fatty acids
FDA approval
Hospitals
Laboratories
Liver diseases
Liver function
Long-term treatment
Metabolites
Patients
Pediatrics
Peroxisomal biogenesis disorder
Urine
Zellweger spectrum disorder
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Summary: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 C 27 -bile acid intermediates due to the lack of peroxisomal β-oxidation of these intermediates to form primary C 24 -bile acids. Oral treatment with primary bile acid, cholic acid (CA), inhibits formation of hepatotoxic C 27 -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 histopathology, and no treatment-related adverse effects were observed. All 3 patients have attended regular school with classroom accommodations and attained a good quality of life. Our patient outcomes suggest that early and ongoing CA therapy may sustain liver function in patients with ZSDs.
ISSN:1662-0631
1662-0631
DOI:10.1159/000490095