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What metabolic defect causes Refsumm disease?
Defect in phytanic acid degrading.
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Which fatty acids yield the most ATP?
Long-chain fatty acids yield more ATP than shorter ones.
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Zellweger syndrome is due to what defect?
Peroxisome biogenesis defect.
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What toxin in unripe ackee fruit inhibits ẞ-oxidation?
Hypoglycin A inhibits ẞ-oxidation.
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What enzyme is defective in Andersen disease (Type IV)?
Glycogen branching enzyme.
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Pompe disease (Type II) results from deficiency of what enzyme?
Acid alpha-glucosidase.
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McArdle disease (Type V) presents with what biochemical finding?
Myophosphorylase deficiency causes exercise intolerance.
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How is glycogenolysis triggered before hormones act?
By intracellular calcium increase.
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What is the role of LCAT?
Converts cholesterol to cholesteryl esters.
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How do statins lower LDL?
Inhibit HMG-CoA reductase.
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How do fibrates reduce triglycerides?
Activate lipoprotein lipase.
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What happens in Apo C-II deficiency?
Reduced clearance of triglyceride-rich lipoproteins.
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Chenodeoxycholic acid therapy dissolves gallstones how?
By reducing cholesterol content in bile.
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What happens to glycerol released by lipoprotein lipase?
Transported to the liver for gluconeogenesis.
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Why do COX-2 inhibitors increase clot risk?
Reduced synthesis of prostaglandins that inhibit platelet aggregation.
在这里浏览你的卡片，或 sign up to study with spaced repetition.
Why does aspirin cause bronchospasm in asthmatics?
Inhibits COX, diverting to leukotriene production.
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Indomethacin toxicity results from what mechanism?
Inhibition of COX leads to gastrointestinal bleeding.
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What is aspirin's mechanism of action?
Inhibition of COX-1 and COX-2.
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How does cortisol inhibit inflammation?
By suppressing pro-inflammatory cytokines.
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Which mediator causes bronchoconstriction in asthma?
Histamine triggers bronchoconstriction.
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What pH favors bile salt activity?
A pH of around 7.5-8.
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Deficiency of cholesteryl ester hydrolase leads to what?
Accumulation of cholesteryl esters.
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What is the mechanism of orlistat?
Inhibits pancreatic lipase.
在这里浏览你的卡片，或 sign up to study with spaced repetition.
21-hydroxylase deficiency causes what hormonal changes?
Increased androgens and decreased cortisol.
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11ẞ-hydroxylase deficiency leads to what?
Increased aldosterone with hypertension.
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What enzyme converts cholesterol → pregnenolone?
Cholesterol side-chain cleavage enzyme (CYP11A1).
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What is the brain's main fuel after prolonged starvation?
Ketone bodies are the main fuel source.
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Which vitamin is a cofactor for glycogen phosphorylase?
Vitamin B6 (pyridoxine).
在这里浏览你的卡片，或 sign up to study with spaced repetition.
Vitamin B12 deficiency causes accumulation of what?
Methylmalonic acid and homocysteine.
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G6PD deficiency causes hemolysis due to lack of what?
NADPH for antioxidant defense.
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What triggers hemolysis in favism?
Consumption of fava beans.
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What is NADPH used for?
Synthesis of fatty acids and nucleotides.
在这里浏览你的卡片，或 sign up to study with spaced repetition.
How does acetaminophen cause liver toxicity?
Depletion of glutathione leads to formation of toxic metabolites.
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What enzyme is deficient in Hurler syndrome?
Alpha-L-iduronidase.
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What enzyme is deficient in Hunter syndrome?
Iduronate-2-sulfatase.
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What defect causes I-cell disease?
Defect in phosphotransferase.
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How does CPS I deficiency present?
Hyperammonemia and respiratory alkalosis.
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What do elevated AST and ALT indicate?
Liver cell damage.
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What happens to VLDL synthesis in the fed state?
Increased VLDL synthesis to transport dietary fats.
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What triggers glycogen synthesis in muscle?
Increased glucose availability post-exercise.
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What is the brain's primary energy source after prolonged fasting?
Ketone bodies during fasting state.
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What causes the fruity odor in diabetic ketoacidosis (DKA)?
Presence of acetone.
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What provides NADPH for fatty acid synthesis?
Hexose monophosphate shunt supplies NADPH.
在这里浏览你的卡片，或 sign up to study with spaced repetition.
How does AMPK regulate fatty acid synthesis?
By inhibiting acetyl-CoA carboxylase.
在这里浏览你的卡片，或 sign up to study with spaced repetition.
How does epinephrine activate lipolysis?
By activating hormone-sensitive lipase.
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What accumulates due to defective peroxisomal a-oxidation?
Phytanic acid (branched-chain fatty acid)
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What does defective peroxisome biogenesis lead to?
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What inhibits carnitine-palmitoyl transferase I?
Hypoglycin A
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What is affected by a deficiency in lysosomal a-1,4-glucosidase?
Glycogen accumulation in heart and liver
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What is the result of muscle glycogen phosphorylase deficiency?
No lactate rise after exercise
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What activates phosphorylase kinase?
Ca2+ binds calmodulin
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What is catalyzed by the enzyme responsible for cholesterol esterification?
Cholesterol esterification in HDL enables reverse cholesterol transport
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What does inhibiting HMG-CoA reductase cause?
Upregulation of hepatic LDL receptors
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What condition is caused by decreased lipoprotein lipase activity?
Hypertriglyceridemia
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What happens to arachidonic acid metabolism when shunted to the leukotriene pathway?
↓ prostaglandins → ulcers; ↓ thromboxanes → bleeding
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What prevents Arachidonic acid formation?
Inhibition of phospholipase A2
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What is a consequence of alkaline pH in the digestive system?
Enhances emulsification
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What does the inhibition of pancreatic lipase lead to?
↓ fat absorption → ↓ fat-soluble vitamins (A, D, E, K)
在这里浏览你的卡片，或 sign up to study with spaced repetition.
How does desmolase affect steroid synthesis?
Catalyzes the conversion in mitochondrial cytochrome P450
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What is the role of Vitamin B6 in metabolism?
Necessary for various enzyme functions, including those related to amino acids
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What condition arises from G6PD deficiency?
Inability to regenerate reduced glutathione
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What is a key characteristic of IDE deficiency?
Hyperammonemia without orotic aciduria
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What activates glycogenin and glycogen synthase?
Insulin
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What does AMPK phosphorylate?
Inhibits acetyl-CoA carboxylase → ↓ fatty acid synthesis
在这里浏览你的卡片，或 sign up to study with spaced repetition.
What metabolic defect causes Refsumm disease?
Defect in phytanic acid degrading.
Which fatty acids yield the most ATP?
Long-chain fatty acids yield more ATP than shorter ones.
Zellweger syndrome is due to what defect?
Peroxisome biogenesis defect.
What toxin in unripe ackee fruit inhibits ẞ-oxidation?
Hypoglycin A inhibits ẞ-oxidation.
What enzyme is defective in Andersen disease (Type IV)?
Glycogen branching enzyme.
Pompe disease (Type II) results from deficiency of what enzyme?
Acid alpha-glucosidase.
McArdle disease (Type V) presents with what biochemical finding?
Myophosphorylase deficiency causes exercise intolerance.
How is glycogenolysis triggered before hormones act?
By intracellular calcium increase.
What is the role of LCAT?
Converts cholesterol to cholesteryl esters.
How do statins lower LDL?
Inhibit HMG-CoA reductase.
How do fibrates reduce triglycerides?
Activate lipoprotein lipase.
What happens in Apo C-II deficiency?
Reduced clearance of triglyceride-rich lipoproteins.
Chenodeoxycholic acid therapy dissolves gallstones how?
By reducing cholesterol content in bile.
What happens to glycerol released by lipoprotein lipase?
Transported to the liver for gluconeogenesis.
Why do COX-2 inhibitors increase clot risk?
Reduced synthesis of prostaglandins that inhibit platelet aggregation.
Why does aspirin cause bronchospasm in asthmatics?
Inhibits COX, diverting to leukotriene production.
Indomethacin toxicity results from what mechanism?
Inhibition of COX leads to gastrointestinal bleeding.
What is aspirin's mechanism of action?
Inhibition of COX-1 and COX-2.
How does cortisol inhibit inflammation?
By suppressing pro-inflammatory cytokines.
Which mediator causes bronchoconstriction in asthma?
Histamine triggers bronchoconstriction.
What pH favors bile salt activity?
A pH of around 7.5-8.
Deficiency of cholesteryl ester hydrolase leads to what?
Accumulation of cholesteryl esters.
What is the mechanism of orlistat?
Inhibits pancreatic lipase.
21-hydroxylase deficiency causes what hormonal changes?
Increased androgens and decreased cortisol.
11ẞ-hydroxylase deficiency leads to what?
Increased aldosterone with hypertension.
What enzyme converts cholesterol → pregnenolone?
Cholesterol side-chain cleavage enzyme (CYP11A1).
What is the brain's main fuel after prolonged starvation?
Ketone bodies are the main fuel source.
Which vitamin is a cofactor for glycogen phosphorylase?
Vitamin B6 (pyridoxine).
Vitamin B12 deficiency causes accumulation of what?
Methylmalonic acid and homocysteine.
G6PD deficiency causes hemolysis due to lack of what?
NADPH for antioxidant defense.
What triggers hemolysis in favism?
Consumption of fava beans.
What is NADPH used for?
Synthesis of fatty acids and nucleotides.
How does acetaminophen cause liver toxicity?
Depletion of glutathione leads to formation of toxic metabolites.
What enzyme is deficient in Hurler syndrome?
Alpha-L-iduronidase.
What enzyme is deficient in Hunter syndrome?
Iduronate-2-sulfatase.
What defect causes I-cell disease?
Defect in phosphotransferase.
How does CPS I deficiency present?
Hyperammonemia and respiratory alkalosis.
What do elevated AST and ALT indicate?
Liver cell damage.
What happens to VLDL synthesis in the fed state?
Increased VLDL synthesis to transport dietary fats.
What triggers glycogen synthesis in muscle?
Increased glucose availability post-exercise.
What is the brain's primary energy source after prolonged fasting?
Ketone bodies during fasting state.
What causes the fruity odor in diabetic ketoacidosis (DKA)?
Presence of acetone.
What provides NADPH for fatty acid synthesis?
Hexose monophosphate shunt supplies NADPH.
How does AMPK regulate fatty acid synthesis?
By inhibiting acetyl-CoA carboxylase.
How does epinephrine activate lipolysis?
By activating hormone-sensitive lipase.
What accumulates due to defective peroxisomal a-oxidation?
Phytanic acid (branched-chain fatty acid)
What does defective peroxisome biogenesis lead to?
What inhibits carnitine-palmitoyl transferase I?
Hypoglycin A
What is affected by a deficiency in lysosomal a-1,4-glucosidase?
Glycogen accumulation in heart and liver
What is the result of muscle glycogen phosphorylase deficiency?
No lactate rise after exercise
What activates phosphorylase kinase?
Ca2+ binds calmodulin
What is catalyzed by the enzyme responsible for cholesterol esterification?
Cholesterol esterification in HDL enables reverse cholesterol transport
What does inhibiting HMG-CoA reductase cause?
Upregulation of hepatic LDL receptors
What condition is caused by decreased lipoprotein lipase activity?
Hypertriglyceridemia
What happens to arachidonic acid metabolism when shunted to the leukotriene pathway?
↓ prostaglandins → ulcers; ↓ thromboxanes → bleeding
What prevents Arachidonic acid formation?
Inhibition of phospholipase A2
What is a consequence of alkaline pH in the digestive system?
Enhances emulsification
What does the inhibition of pancreatic lipase lead to?
↓ fat absorption → ↓ fat-soluble vitamins (A, D, E, K)
How does desmolase affect steroid synthesis?
Catalyzes the conversion in mitochondrial cytochrome P450
What is the role of Vitamin B6 in metabolism?
Necessary for various enzyme functions, including those related to amino acids
What condition arises from G6PD deficiency?
Inability to regenerate reduced glutathione
What is a key characteristic of IDE deficiency?
Hyperammonemia without orotic aciduria
What activates glycogenin and glycogen synthase?
Insulin
What does AMPK phosphorylate?
Inhibits acetyl-CoA carboxylase → ↓ fatty acid synthesis
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