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Step 1 9.12.12
Enzyme Deficiencies and Lipid Metabolism
| Question | Answer |
|---|---|
| what is the deficient enzyme, accumulated substrate and inheritance of Fabry's disease? | alpha-galactosidase A, ceramide trihexoside, XR |
| What are the findings of Fabry's disease? | peripheral neuropathy of hands and feet, angiokeratomas, cardiovascular and reana disease |
| what is the deficient enzyme, accumulated substrate and inheritance of Gaucher's disease? | glucocerebrosidase, glucocerebroside, AR |
| What are the findings in Gaucher's disease? | hepatosplenomegaly, aspetic necrosis of femur, Gaucher's cells |
| What are Gauchers Cells? | Marcrophages that look like tissue paper |
| what is the deficient enzyme, accumulated substrate and inheritance of Niemann-Pick disease? | sphingomyelinase, sphingomyelin, AR |
| What are the findings in Niemann-Pick disease? | progressive neurodegeneration, hepatosplenomegaly, cherry red spot, foam cells |
| what is the deficient enzyme, accumulated substrate and inheritance of Tay-Sach's? | hexosamidase A, GM2 ganglioside,AR |
| What are the findings in Tay-Sach's disease? | progressive neurodegeneration, developmental delay, cherry red spot, lysosomes with onion skin |
| What is the major difference between Tay Sachs and Niemann Pick disease? | tay sachs does not have hepatosplenomegaly |
| what is the deficient enzyme, accumulated substrate and inheritance of Krabbe's disease? | beta-galactocerebrosidase, galactocerobroside, AR |
| What are the findings in Krabbe's disease? | peripheral neurpathy, developmental delay, optic atrophy. GLOBOID MACROPHAGES |
| what is the deficient enzyme, accumulated substrate and inheritance of Metachromatic leukodystophy? | arylsulfatase A, cerebroside sulfate, AR |
| What are the findings in metachromatic leukodystrophy? | central and peripheral demyelination with ataxia and dementia |
| what is the deficient enzyme, accumulated substrate and inheritance of Hurler's syndrome? | alpha-l-iduronidase, heparin sulfate(durmatan sulfate), AR |
| What are the findings in Hurler's syndrome? | developmetnal delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly |
| what is the deficient enzyme, accumulated substrate and inheritance of Hunter's syndrome? | iduronate sulfatase, heparin and dermatan sulfate, XR |
| What are the findings of Hunter's syndrome? | mild develomental delay, hepatosplenomegaly, aggressive behavior and no corneal clouding |
| What is a mnemonic for the deficient enzyme of Niemann-Pick? | No Man Picks his nose with his Sphinger (sphingomyelinase) |
| What is a mnemonic for the deficent enzyme of Tay sachs? | Tay SaX( heXosamidase |
| What people are Tay Sachs, Niemann Pick, and Gaucher's disease more common? | Ashkenazi Jews |
| What is a mnemonic for the presentation and inheritance of Hunter's syndrome? | Hunters see clearly and aim for the X (no corneal clouding, XLR) |
| The citrate shuttle is involved with which process? | FA synthesis from acetyl CoA |
| The carnitine shuttle is involved with which process? | FA metabolism to ketones and TCA cycle |
| What is the mechanism and Sx of carnitine deficiency? | can't transport LCFA's into mitochondria, so they accumulate. causes weakness, hypotonia and HYPOKETOTIC HYPOGLYCEMIA |
| where does FA metabolism take place? | mitochondria |
| What are the Sx of Acyl-CoA DH deficiency? | increased dicarboxylic acid, increased glucose and ketones |
| What are FA and AA normally converted to in the liver? | acetoacetate, Beta-hydroxybutyrate |
| In what 2 states are there increased ketone bodies and how are they made? | Starvation (by lack of oxaloacetate) and alcoholism (by shunting to malate), TCA cycle gets stalled and ketone bodies produced with are metabolized by the brain to 2 Acetyl-CoA |
| What are the signs that ketone bodies are being produced? | breath smells like acetone, urine test for ketones does not detect beta-hydroxybutyrate |
| How much energy from 1 g of carb vs 1 g of fat? | 1g portein or carb=4 kcal. 1g fat=9kcal |
| What are the body's overall priorities in starvation? | supply glucose to brain and RBC's, preserve protein |
| What metabolism is used in the fed state and what is used to stimulate storage of lipids, proteins and glycogen? | use glycolysis and aerobic respiration. insulin stimulates storage |
| What metabolism is used in the fasting state and what is used to stimulate usage of reserve fuels? | hepatic glycogenolyisis, adipose relase of FFA. use glucagon and adrenaline to use fuel reserves |
| How is blood glucose level maintained in the first 3 days of starvation? | 2.hepatic glycogenolyisis 2. adipose relase of FFA 3. muslce and liver shift fuel use to FFA 4. hepatic gluconeogenesis from alanine and lacktate, adipose tissue(only odd chain FFA) |
| How long does it take to deplete glycogen reserves? | only 1 day |
| Why can't RBC's use ketones? | no mitochondria |
| What is the major source of energy for the body after 3 days of starvation? | adipose stores, after this vital protein degradation, organ failure, death |
| What is the rate limiting enzyme in cholesterol synthesis and what does it catalyze? | HMG-CoA reductase. HMGCoA--->mavelonate |
| What is the drug target of statins? | inhibits HMG-COA reductase (cholesterol synthesis) |
| What enzyme degrades dietary triglycerides in the small intestine? | pancreatic lipase |
| What enzyme degrades triglycerides circulation in chylomicrons and VLDLs? | lipoprotein lipase |
| What enzme degrades triglycerides in IDL? | Hepatic TG lipase |
| What enzyme degrades triglycerides stored in adipocytes? | hormone sensitive lipase |
| What enzyme catalyzes the esterification of cholesterol? | licithin-cholesterol acyltransferase(LCAT) |
| What enzyme mediates the tranfer of cholesterol esters to other lipoprotein particles? | cholesterol ester transfer protein (CETP) |
| What is the process of triglycerides degradation? | dietary fat--->chylomicrons--->chylomicron remants |
| What is the function of apolipoprotein E and where is it found? | mediates remant uptake, found in chylomicron, chylomicron remnant, VLDL, IDL, HDL. NOT LDL |
| What is the function of apolipoprotein A-I and where is it found? | activates LCAT, chylomicron,HDL |
| What is the function of apolipoprotein C-II and where is it found? | lipoprotein lipase cofactor, found chylomicron, VLDL |
| What is the function of apolipoprotein B-48 and where is it found? | mediates chylomicron secretion, chylomicrons and chylomicron remants |
| What is the function of apolipoprotein B100 and where is it found? | binds LDL, found VLDL, IDL, LDL |
| What is the action of LDL and is it good for you? | transports cholesterol from liver to tissues. LDL IS LOUSY |
| What is the action of HDL and is it good for you? | transports cholesterol from periphery to liver. HDL IS HEALTHY |
| What is the role of chylomicrons and where are they produced? | delivers dietary TGs to peripheral tissue, delievers holesterol to liver as remants. secreted by intestinal epithelial cells |
| What is the role of VLDL and what secretes it? | delivers hepatic triglycerides to peripheral tissue. secreted by liver |
| what is the role of IDL? | formed in degradation of VLDL, delivers triglycerides and cholesterol to liver where they are degraded to LDL |
| What is the role of LDL and how is it taken up? | delivers hepatic cholesterol to tissue. fomred by modification of VLDL. taken up by receptor mediated endocytosis |
| What is the role of HDL, what secretes it and what is it a repostiory for? | mediates cholesterol transport from periphery to liver, acts as repository of apoC and apoE (needed for chylomicron metabolism). secreted by liver and intestine |
| what is the pathophysiology of Type I familial dyslipidemia- hyper chylomicronemia? | lipo[protein lipase deficiency or alterd apolipoprotien CII, |
| What are the findings and blood labs of Type I familial dyslipidemia hyper chylomicronemia? | pancreatitis, hepatosplenomegaly, puritic xanthomas. increased chylomicrons and elevated blood lelvesl of TG, cholesterol |
| what is the pathophysiology of Type IIa familial dyslipidemia- familial hypercholesterolnemia? | autosomal dominant. absent LDL receptors, |
| What findings and blood labsare expected in Type IIa familial dyslipidemia-familial hypercholesterolnemia? | accelerated atherosclerosis, achilles xanthomas, corneal arcus. increased LDL and cholesterol in blood |
| what is the pathophysiology of Type IV familial dyslipidemia- hypertriglyceridemia? | hepatic overproduction of VLDL |
| What findings and blood labsare expected in Type IV familial dyslipidemia-hypertriglyceridemia? | increased VLDL, elevated blood TG. causes pancreatitis |
Created by:
tjs2123
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