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Step 1 9.12.12

Enzyme Deficiencies and Lipid Metabolism

QuestionAnswer
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