ELECTROMAGNETISM AND ITS APPLICATION
CHAPTER ONE
- Introduction
Inborn errors of metabolism are inherited disorders in which the body cannot metabolize the components of food (carbohydrates, protein and fats). Metabolism is the biochemical process that changes food components into energy and other required molecules. These disorders may be caused by the altered activity of essential enzymes, deficiencies of the substances that activate the enzymes, or faulty transport compounds (Valle, 2004).
Protein-dependent inborn errors of metabolism are caused by inherited enzyme defects of catabolic pathways or intracellular transport of amino acids. Most result in an accumulation of metabolites upstream of the defective enzyme (amino acids and ammonia) causing intoxication protein dependent metabolic disease usually have a low prevalence except for come high-risk communities with high consanguinity rates (Beaudet, 1997). However, the cumulative prevalence of these disorders is considerable (i.e. at least > 1:2000 newborns) and represents an important challenge for all public health systems.
Twenty amino-acids, including nine that cannot be synthesized in humans and must be obtained through food, are involved in metabolism. Amino acids are the building blocks of proteins. Some also function as or are synthesized into important molecules in the body such as neuro-transmitters and oxygen-carrying molecule. Each amino acid is further broken down into ammonia, carbon dioxide and water. Disorders that affect the metabolism of amino acids include phenylketonuria, Tryosinaemia, Albinism, Cystinuria disease. These disease are autosomal recessive, and all may be diagnose by analyzing amino acid concentrations in body fluids.
