Several defects in the biosynthesis of bile acids are known. These disorders are usually characterised by persistent jaundice, hepatomegaly, steatorrhoea, failure to thrive usually in the neonatal period (although presentation in older patients has been described). Symptoms associated with poor absorption of fat soluble vitamins are also common features eg. bleeding abnormalities (vitamin K), rickets (Vitamin D) and low vitamin E levels. Significantly GGT levels may be normal or only slightly elevated when other liver functions are abnormal. Several steps of bile acid biosynthesis occur in peroxisomes and several peroxisomal disorders result in the excretion of abnormal bile acids.
Bile acid synthesis defects
If overnight - Frozen
to be entered
Referred to Victoria Clinical Genetics Service Melbourne
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