Abstract Mitochondrial fatty acid β-oxidation (FAO) is an essential component of energy production and homeostasis in humans. During periods of limited glucose supply, FAO in the liver provides energy for…
Abstract Lysosomes are membrane-bound cellular organelles that contain multiple hydrolases needed for the digestion of various macromolecules including mucopolysaccharides, glycosphingolipids, cholesterol esters and oligosaccharides. Moreover, the lysosome is emerging as…
Abstract The urea cycle, first described in 1932 by Krebs and Henseleit, is the only metabolic pathway responsible for converting nitrogenous waste, produced by the breakdown of protein and other…
Abstract Hepatorenal tyrosinemia1 is a severe inborn error of metabolism that can affect numerous organs, particularly the liver, kidneys, and peripheral nerves. In the first accounts of patients with features…
Abstract Excess copper in the liver is toxic in humans and other mammals, and may lead to acute or chronic hepatitis, steatohepatitis, acute liver failure, cirrhosis and death. Of the…
Abstract Iron overload states can be classified as primary or secondary. There are many disorders that can lead to iron overload (Table 29.1) [1, 2]. This chapter focuses on hereditary…
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 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 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 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]….