Liver and the defects of cholesterol and bile acids biosynthesis: Rare disorders many diagnostic pitfalls.

ABSTRACT: In recent decades, biotechnology produced a growth of knowledge on the causes and mechanisms of metabolic diseases that have formed the basis for their study, diagnosis and treatment. Unfortunately, it is well known that the clinical features of metabolic diseases can manifest themselves with very different characteristics and escape early detection. Also, it is well known that the prognosis of many metabolic diseases is excellent if diagnosed and treated early. In this editorial we briefly summarized two groups of inherited metabolic diseases, the defects of cholesterol biosynthesis and those of bile acids. Both groups show variable clinical manifestations but some clinical signs and symptoms are common in both the defects of cholesterol and bile acids. The differential diagnosis can be m

SUBMITTER: Corso G 

PROVIDER: S-EPMC5550775 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature