Abstract Inborn errors of carbohydrate metabolism that lead to hepatic dysfunction are represented mainly by galactosemia, hereditary fructose intolerance (HFI), and glycogen storage disease (GSD) types I, III, IV, VI…
Abstract The porphyrias are metabolic disorders each resulting from the deficiency of a specific enzyme in the heme biosynthetic pathway (Figure 30.1 and Table 30.1) [1–6]. These enzyme deficiencies are…
Abstract Cystic fibrosis (CF) is a genetic disorder characterized by epithelial electrolyte transport abnormalities, elevated sweat Cl– concentrations, pancreatic insufficiency, and chronic lung disease in most patients. It is the…
Abstract Homozygous (PiZZ phenotype1) α1-antitrypsin (α1-AT) deficiency is a relatively common autosomal codominant genetic disorder, affecting 1 in 1,600–3,000 live births in most populations of Northern European ancestry [1, 2]….
Abstract Drug-induced liver disease has been regarded as rare in children. Large surveys have generally failed to detect drug hepatotoxicity as a major problem in children [1], although adverse drug…
Abstract The liver plays an important role in the immune defense because of its central position adjacent to the gastrointestinal tract, representing the first line of defense against ingested or…
Abstract Liver disease due to inborn errors of metabolism (IEM) is relatively common, and this group of disorders is recognized with increasing frequency as a cause of disease at every…
Abstract Primary sclerosing cholangitis (PSC) is an idiopathic progressive fibrosing cholangiopathy characterized by chronic inflammation and injury of the intra- and/or extrahepatic bile ducts, leading to fibrosis and cholestasis. Although…
Abstract The hepatic rudiment appears at approximately day 18 of gestation in the human embryo. By day 25 it can be recognized as an endodermal diverticulum, which projects into the…
Abstract Hepatitis B virus (HBV) infection continues to be a major global health problem [1]. HBV infection may cause acute, fulminant, or chronic hepatitis, cirrhosis and liver cancer. Although complications…
