TY  - JOUR
TI  - Pathways and Inborn Errors of Bile Acid Synthesis
AB  - Bile acids are synthesized from cholesterol through 17 different enzymes located indifferent intracellular compartments of hepatocytes. Defects have been identifiedin the genes encoding the enzymes involved in the bile acid synthesis pathways andnine different diseases have been identified so far. In this review, four different biosynthetic pathways of bile acids together with disorders of bile acid synthesis are described. In inborn errors of bile acid synthesis clinical findings can range from liverfailure to cirrhosis in infancy or progressive neuropathy in adolescence / adulthood.Laboratory analysis of urine profiling of bile acids is important in early diagnosis andearly treatment.
AU  - BOZKURT OBUZ, UFUK
AU  - LAY, İNCİLAY
PY  - 2019
JO  - Acta Medica
VL  - 50
IS  - 4
SN  - 2147-9488
SP  - 48
EP  - 56
DB  - TRDizin
UR  - http://search/yayin/detay/330038
ER  -