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define metabolic pathway a sequence of reactions, controlled by enzymes, that convert one metabolite into another – eg. respiration explain how genes control metabolic pathway genes code for proteins enzymes are proteins enzymes control each reaction
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define metabolic pathway • a sequence of reactions, controlled by enzymes, that convert one metabolite into another – eg. respiration • explain how genes control metabolic pathway • genes code for proteins • enzymes are proteins • enzymes control each reaction • explain how genetic mutations can effect metabolic • pathways • the correct enzyme is not synthesised • a blockage occurs in metabolic pathway • accumulating metabolite can cause problems
discuss the genetic disorder phenylketonuria (PKU) • phenylalanine and tyrosine are amino acids obtained from protein in the diet • phenylalanine is normally converted to tyrosine • in PKU sufferers a mutation occurs in the gene that codes for the enzyme • phenylalanine is not converted to tyrosine
phenylalanine accumulates in the blood • brain damage can result • 1 in 10,000 people suffer from PKU • all babies are tested for PKU a few days after birth • no treatment exists • must stick to a low phenylalanine diet • receive regular blood tests