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6 Cards in this Set
- Front
- Back
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What is the most commonly defective enzyme leading to impaired beta oxidation of fatty acids? What does it prevent? |
Acyl CoA dehydrogenase which prevents the normal production of FADH and NADH for ATP production and prevents the formation of Acetyl CoA which is used in the TCA cycle |
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What is a common characteristic seen in patients from Acyl CoA dehydrogenase defect after a prolonged fast? |
Hypoketotic hypoglycemia due to defective beta oxidation |
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What is the function of carnitine? |
To transport fatty acids across the mitochondrial membrane for beta oxidation |
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What would you expect to see in a patient with carnitine deficiency who hasn't eaten for 24 hours? |
Hypoketotic hypoglycemia due to the inability to transport fatty acids into the mitochondria for beta oxidation |
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Amatoxin from Amanita mushies produce a toxin that is toxic to the liver. What is the toxins mechanism? Why is the liver singled out? How do you diagnose? |
It binds to RNA polymerase II and inhibits the production of mRNA which halts protein production and leads to apoptosis. (If you eat death caps you're going 2 die) The liver is affected more because it is the first site that sees the toxin after digestion Diagnose by detecting amanitin in the urine |
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What enzyme is defective in homocysteinuria? What is a common blood finding with this disease? |
Cystathionine synthase defect is the most common cause You will also see increased serum methionine due to the excessive homocysteine |
