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UNIT 3 INBORN ERRORS OF METABOLISM Enzyme and Protein Diversity in Human Populations Contents 3.1 Introduction 3.2 Inborn Errors of Metabolism: Genesis 3.3 Inborn Errors of Metabolism in Man 3.3.1 Phenylketonuria 3.3.2 Alkaptonuria 3.3.3 Galactosemia and Galactosuria 3.3.4 Disorders of Lipid Metabolism: Familial Hypercholesterolemia 3.4 Summary Suggested Reading Sample Questions Learning Objectives & After reading this unit, you will be able to: Ø define and explain with regard to metabolism; Ø discuss inborn errors of metabolism; and Ø discuss the examples for inborn errors of metabolism such as Phenylketonuria, Alkaptonuria, Galactosemia & Galactosuria; and Hypercholesterolemia. 3.1 INTRODUCTION Metabolism broadly refers to the sum total of all the chemical changes occurring in a cell, a tissue or the body, and these chemical changes are performed through organized multistep pathways involving a number of enzymes, proteins and biochemical ingredients. There are several pathways or cycles that intersect with each other forming a cohesive co-ordinated network of chemical reactions. The sum total of chemical reactions performed through different pathways can be classified as either Catabolic (degradative) or Anabolic (Synthetic). The breaking down of complex molecules such as proteins, polysaccharides and lipids etc. to simple molecules such as Co2, NH3 (ammonia) and water is the example of catabolic reaction. The synthetic or anabolic path way refers to the ...
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