ACOX2 deficiency: an inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia
Background & Aims Acyl-CoA oxidase (ACOX2) is involved in the shortening of C27
cholesterol derivatives to generate C24 bile acids. Inborn errors affecting the rest of
peroxisomal enzymes involved in bile acid biosynthesis have been described. Here we
aimed at investigating the case of an adolescent boy with persistent hypertransaminasemia
of unknown origin and suspected dysfunction in bile acid metabolism. Methods Serum and
urine samples were taken from the patient, his sister and parents and underwent HPLC …
cholesterol derivatives to generate C24 bile acids. Inborn errors affecting the rest of
peroxisomal enzymes involved in bile acid biosynthesis have been described. Here we
aimed at investigating the case of an adolescent boy with persistent hypertransaminasemia
of unknown origin and suspected dysfunction in bile acid metabolism. Methods Serum and
urine samples were taken from the patient, his sister and parents and underwent HPLC …
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