Bile acids: the role of peroxisomes.
It is well established that peroxisomes play a crucial role in de novo bile acid synthesis. Studies in patients with a peroxisomal disorder have been indispensable for the elucidation of the precise role of peroxisomes. Several peroxisomal disorders are associated with distinct bile acid abnormalities and each disorder has a characteristic pattern of abnormal bile acids that accumulate, which is often used for diagnostic purposes. The patients have also been important for determining the pathophysiological consequences of defects in bile acid biosynthesis. In this review, we will discuss all the peroxisomal steps involved in bile acid synthesis and the bile acid abnormalities in patients with peroxisomal disorders. We will show the results of bile acid measurements in several tissues from patients, including brain, and we will discuss the toxicity and the pathological effects of the abnormal bile acids.
Ferdinandusse
Sacha
S
Laboratory of Genetic Metabolic Diseases, Academic Medical Center at the University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. S.Ferdinandusse@amc.uva.nl
Denis
Simone
S
Faust
Phyllis L
PL
Wanders
Ronald J A
RJ
D000818:Animals; D001647:Bile Acids and Salts / Q000096:biosynthesis*; D053898:Biosynthetic Pathways; D006801:Humans; D018901:Peroxisomal Disorders / Q000378:metabolism* / Q000503:physiopathology; D020675:Peroxisomes / Q000378:metabolism* / Q000502:physiology
D001647:Bile Acids and Salts