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Learning objectives By the end of this chapter the reader should: Understand the biochemistry of metabolism, including urea cycle, Krebs cycle and fatty acid cycle Understand the pathophysiology of metabolic disorders, e.g. electrolyte and acid–base disturbance, hyperammonaemia and hypoglycaemia Know…
After reading this chapter you should: know the biochemical features of metabolic diseases be able to undertake and interpret relevant metabolic investigations understand the clinical presentation and prognosis of metabolic diseases know the screening procedures for inherited metabolic conditions Metabolic…