Tandem mass spectrometry of serum cholestanoic (C27) acids – Typical concentration ranges and application to the study of peroxisomal biogenesis disorders

Abstract Stable-isotope dilution MS/MS assay determines all 8 atypical C27 bile acids. C27 bile acids accumulate in patients with peroxisomal disorders. Pediatric ranges for serum C27 bile acids established for first time. Differential diagnosis of AMACR deficiency is possible in the same analytical run. This new data will help in screening, evaluation and work-up of patients with peroxisomopathies. Article type: Research Article Keywords: Bile acids, Cholestanoic acids, Peroxisomal Disorders, Mass Spectrometry, Cholestasis, Pediatrics Authors: Wujuan Zhang, Monica Narvaez Rivas, Kenneth