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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
What is a common characteristic seen in patients from Acyl CoA dehydrogenase defect after a prolonged fast?
Hypoketotic hypoglycemia due to defective beta oxidation
What is the function of carnitine?
To transport fatty acids across the mitochondrial membrane for beta oxidation
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
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
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
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