Klinični oddelek za gastroenterologijo, hepatologijo in nutricionistiko, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija in Katedra za pediatrijo, Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija
Bile acids synthesis disorders are a group of rare inherited metabolic diseases that present with cholestasis, liver failure or cirrhosis and are sometimes accompanied by steatorrhoea and/or neurological symptoms. Their recognition is not always straightforward. The most important step in the diagnosis is to include them in the differential diagnosis. In the laboratory results, low gamma-GT cholestasis with low or normal concentrations of bile acids is usually seen. Specific enzyme deficiencies are detected by urine mass spectrometry and confirmed by genetic analysis. The majority of bile acids synthesis disorders can be successfully treated long-term orally with cholic acid.
Key words: cholestasis, infant, low gamma-GT, bile acids, cholic acid