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Metabolism . Case 1 . What are the general names for the enzymes in galactose metablosim ? Is it worse to have a problem with the first of second enzyme in the pathway? What happens if there is a large build up in galactose ? What does this lead to? .
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Case 1 • What are the general names for the enzymes in galactosemetablosim? • Is it worse to have a problem with the first of second enzyme in the pathway? • What happens if there is a large build up in galactose? • What does this lead to?
There is a kinase and a transferase enzyme (with a udpepimerase) • Transferase enzyme-there will be a build up of galactose phosphate- acidic and it uses ATP • Galactose is reduced galactitol by aldose reductase using NADPH • Less NADPH- proteins with –sh groups will form disulphide bridges- cataracts,
Case 2 • What is produced in the pentose phosphate pathway • What is the key enzyme? • What will happen if this enzyme is deficient?
5 carbon sugar- dna, NADPH-Lipid and cholesterol synthesis, prevent disulphide bonds • Glucose 6 phosphate dehydrogenase • Deplete NADPH, heinz bodies form.
Case 3 • Why is ammonia toxic? • What are the three ways for dealing with ammonia • What is Phenylketonuria? • How is it tested for? • Why is it tested for so early?