Inborn errors of primary bile acid synthesis are rare genetic disorders that cause chronic liver disease, steatorrhea and fat-soluble vitamins deficiency in childhood. Absence of itching, normal γGT and serum bile acids suggest the diagnosis, confirmed by urinary mass spectrometry and gene analysis. Oral cholic acid is a safe and effective therapy for the most common defects that if untreated may lead to early cirrhosis and liver failure.

L’acido colico nel trattamento degli errori congeniti del metabolismo degli acidi biliari

Giuseppe Maggiore
Ultimo
2018

Abstract

Inborn errors of primary bile acid synthesis are rare genetic disorders that cause chronic liver disease, steatorrhea and fat-soluble vitamins deficiency in childhood. Absence of itching, normal γGT and serum bile acids suggest the diagnosis, confirmed by urinary mass spectrometry and gene analysis. Oral cholic acid is a safe and effective therapy for the most common defects that if untreated may lead to early cirrhosis and liver failure.
Pietrobattista, Andrea; Cananzi, Mara; Matarazzo, Lorenza; Ferrari, Federica; Maggiore, Giuseppe
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11392/2387224
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