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141 Cards in this Set
- Front
- Back
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What is the function of Pancreatic lipase
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degradation of dietary TG in small intestine
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What is the function of LPL (lipoprotein lipase)
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degradation of TG circulating in chylomicrones and VLDLs
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What is the function of Hepatic TG lipase (HL)
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degradation of TG remaining in IDL
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What is the function of hormone-sensitive lipase
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degradation of TG stored in adipocytes
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What is the function of LCAT (lecithin cholesterol acyltransferase)
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catalyzes esterification of cholesterol
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What is the function of CETP (cholesterol ester transfer protein)
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mediates transfer of cholesterol esters to other lipoprotein particles
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What is the function of A-I
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Activates LCAT for cholesterol esterificatio
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What is the function of B-100
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Binds to LDL receptor, mediates VLDL secretion (extrahepatic)
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What is the function of C-II
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Cofactor for lipoprotein lipase
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What is the function of B-48
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Mediates chylomicron secretion
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What is the function of E
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Mediates extra (remnant) uptake/ VLDL and chylomicrone remnant uptake by liver cells
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What is the function and route of chylomicrons
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delivers dietary TG to peripheral tissue. Delivers cholesterol to liver in the form of chylomicron remnants which are mostly depleted for their triacylglycerols.
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Where are chylomicrons secreted from
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Secreted by intestinal epithelial cells
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What is the function and route of VLDL
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delivers hepatic TG to peripheral tissue.
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Where are VLSL secreted by
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liver
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What is the function and route of IDL
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Formed in the degradation of VLDL. delivers triglycerides and cholesterol to liver, where they are degraded to LDL
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What is the function and route of LDL
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delivers hepatic cholesterol to peripheral tissues. Formed by LPL modification of VLDL in the peripheral tissue. Taken up by target cells via receptor-mediated endocytosis
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What is the function and route of HDL
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Mediates reverse cholesterol transport from periphery to liver. Acts as a repository for apoC and apoE (which are needed for chylomicron and VLDL metabolism)
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Where is HDL secreted from
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liver and intestine
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Which apoproteins are found on LDL
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B-100
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Which apoproteins are found on IDL
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B-100, E
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Which apoproteins are found on VLDL
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B-100,C-II E
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Which apoproteins are found on chylomicrons
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A-IV, B-48, C-II, E
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What is type I dislipidemia
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hyperchylomicronemia
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What is type II dislipidemia
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familial hypercholesterolemia
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What is type III dislipidemia
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familial dysbetaproteinemia
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What is type IV dislipidemia
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hypertriglyceridemia
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What particle is elevated in type I hyperchylomicronemia
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chylomicrons
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What particle is elevated in type II familial hypercholesterolemia
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LDL
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What particle is elevated in type III familial dysbetaproteinemia
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VLDL, chylomicrons
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What particle is elevated in type IV hypertriglyceridemia
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VLDL
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What's elevated in blood in type I hyperchylomicronemia
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TG, cholesterol
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What's elevated in blood in type II familial hypercholesterolemia
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cholesterol
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What's elevated in blood in type IV hypertriglyceridemia
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TG
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What's elevated in blood in type III familial dysbetaproteinemia
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TG. cholesterol
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What is missing/problem with abeta-lipoproteinemia
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inability to synthesize lipoproteins d/t deficiencies in apoB-100 and apoB-48
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What does intestinal biopsy show in abeta-lipoproteinemia
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inability to export lipid as chylomicrons --> accumulation in enterocytes
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What are the findings in abeta-lipoproteinemia
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failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness
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What are FA and amino acids metabolised to in liver
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acetoacetate, beta-hydroxybutyrate
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how many cal does 1g carbs yield
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4 kcal
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how many cal does 1g fat yield
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9 kcal
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how many cal does 1g protein yield
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4 kcal
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rate limiting step in cholesterol synthesis
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HMG-CoA reductase
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Fuel use in 100-meter sprint (seconds)
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stored ATP, creatine phosphate, anaerobic glycolysis
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Fuel use in 1000-meter run (minutes)
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stored ATP, creatine phosphate, anaerobic glycolysis, oxidative phosphorylation
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Fuel use in marathon (hours)
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glycogen, FFA oxidation, glucose conserved for final sprinting
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Fuel use in fed state
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glycolysis and aerobic respiration
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Fuel use in fasting state between meals
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Hepatic glycogenolysis (major)
hepatic gluconeogenesis, adipose release of FFA (minor) |
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Fuel use in starvation (days 1-3)
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1) hepatic glycogenolusis
2) adipose release of FFA 3) muscle and liver, which shift fuel use from glucose to FFA 4) hepatic gluconeogenesis from peripheral tissue lactate and alanine, from adipose tissue glycerol and propionyl-CoA |
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Fuel use in starvation after day 3
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adipose stores (ketones main source of energy for brain & heart)
after these are depleted vital protein degradation accelerates, leading to organ failure and death |
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Findings in Fabry's
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peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal ldisease
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Findings in Gaucher's (most common)
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hepatosplenomegaly, aseptic necrosis of femur, bone crisis, Gaucher cells (macrophages that look like crumples tissue paper)
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Findings in Niemann-Pick's
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progressive neurodegernation, hepatosplenomegaly, cherry red spot on macula, foam cells
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Findings in Tay-Sachs
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progressive neurodegernation, developmental delay, cherry red spot on macula, lysosomes with onion skin, NO hepatosplenomegaly (vs. Niemann Pick)
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Findings in Krabbe
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peripheral neuropathy, developmental delay, optic atrophy, globoid cells,
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Findings in metachromatic leukodystrophy
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central and peripheral demyelination with ataxia, dementia
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Findings in Hurler's
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developmental delay, gargoylism airway obstruction, corneal clouding
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Findings in Hunter's
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mild hurlers + aggressive behavior, NO corneal clouding
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Deficient enzyme in Hunter's
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Iduronate sulfatase
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Accumulated substrate in hunter's
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heparan sulfate, dermatan sulfate
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Deficient enzyme in Huler's
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alpha-L-iduronidase
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Accumulated substrate in Hurler's
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Heparan sulfate, dermatan sulfate
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Deficient enzyme in Metachromatic leukodystrophy
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arylsulfatase A
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Accumulated substrate in Metachromatic leukodystrophy
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cerebroside sulfate
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Deficient enzyme in Krabbe
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galactocerebrosidase
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Accumulated substrate in Krabbe
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galactocerebroside
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Deficient enzyme in Tay-Sachs
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hexosaminidase A
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Accumulated substrate in Tay-Sachs
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GM2 ganglioside
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Deficient enzyme in Niemann Pick
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sphingomyelinase
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Accumulated substrate in Niemann Pick
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sphingomyelin
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Deficient enzyme in Gaucher's
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beta-glucocerebrosidase
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accumulated substrate in Gaucher's
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glucocerebrosidase
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Deficient enzyme in Fabry's
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alpha-galatosidase A
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accumulated substrate in Fabry's
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ceramide trihexoside
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Which lysosomal storage disorders are X-linked recessive
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Fabry's, Hunter's
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Deficient enzyme in von gierke's (type I)
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glucose 6-phosphatase
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Deficient enzyme in pompe's (type II)
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lysosomal alpha-1,4-glucosidase
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Deficient enzyme in cori's (type III)
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debranching enzyme = alpha-1,6-glucosidase
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Deficient enzyme in McArcle's (type IV)
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skeletal muscle glycogen phosphorylase
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Findings in von gierke's (type I)
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severe fasting hypoglycemia, increase glycogen storage in liver (but norm structure), inc. blood lactate, hepatomegaly, hyperuricemia, hyperlipidemia
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Findings in pompe's (type II)
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cardiomegaly, normal blood sugar levels, glycogen accumulation in lysosomes, systemic findings leading to early death
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Findings in cori's (type III)
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milter form of type I, normal blood lactate level
hypoglycemia, hyerpTGemia, ketoacidosis, hepatomegaly |
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Findings in McArcle's (type IV)
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increase glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenuous exercise
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Genetics of hartnup's
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AR
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what is the problem in Hartnup's
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defective neutral amino acids transporter on renal & intestinal epithelial cells --> tryptophan excretion
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Findings in Hartnup's
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dec. trp absorption in gut, inc. excretion in uring
Leads to pellagra |
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Maple syrup urine disease - what is wrong
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blocked degradation of branched amino acids (Ile, Leu, Val) due to dec. alpha-ketoacid dehydrogenase
--> increase alpha-ketoacids in blood, esp. Leu |
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Maple syrup urine disease - findings
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severe CNS defects, mental retardation and death
urine smells like maple syrup |
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Cystinuria - what's the problem
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hereditary defect of renal tubular amino acids transporter for cysteine, ornithine, lysine and arginine in PCT of kidneys
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Cystinuria - findings
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excess cystine (2 connected by disulfide bond) in urine can lead to ppt of cystine kidney stones.
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Cystinuria - TX
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acetazolamide to alkalinize urine
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Homocystinuria - pathophys
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1) cystathionine synthase deficiency (Tx: inc cystein, dec. methionine, inc. B12 and folate)
2) dec. affinityof cystathionine synthase for vit B6 (Tx. inv. vit B6) 3) homocystein methyltransferase deficiency |
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Homocystinuria - findings
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much increase homocysteine in urine, mental retardation, osteoporosis, tall stature, kyphosis, lens sublaxation (downward and inward), atherosclerosis (stroke and MI), hypercoagulability
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Albinism - pathophys
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congenital deficiency of either
1) tyrosinase (inability to synthesize melanin from tyrosine) - AR 2) defective tyrosine transporters (dec. amts of tyrosine and thus melanin) - can also rest from lack of neural crest cell migration |
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alkaptonuria - pathophys
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congenital deficiency of homogentistic acid oxidase in the degradative pathway of tyrosine to fumarate.
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alkaptonuria - findings
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dark CT, brown pigmented sclera, urine turns black on standing, may have debilitating arthralgias (homogentistic acid toxic to cartilage)
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phenylketonuria - pathphys
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dec. phenylalanine hydroxylase
or dec. THB (tetrahydrobiopterin cofactor). |
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phenylketonuria - lab findings
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inc. phenylketons in urine (phenyllactate, phenylacetate, phenylpyruvate)
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phenylketonuria - findings
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mental retardation, growth retardation, seizures, fair skin, eczema, musty body odor
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phenylketonuria - treatment
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dec. phenylalanine, inc. tyrosine
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Maternal PKU
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lack of proper dietary therapy during pregnancy. Findings infant - microcephaly, mental retardation, growth retardation, congenital heart defects.
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What catalyzes phenylalanine to tyrosine
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phenylalanine hydroxylase
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What catalyzes tyrosine to dopa
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tyrosine hydroxylase
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What catalyzes dopa to dopamine
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dopa decarboxylase
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What catalyzes dopamine to NE
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dopamine beta-hydroxylase
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What catalyzes NE to E
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PMNT (pheylethanolamine N-methyl transferase)
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What cofactors are required for Phe to Tyr
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THB, NADP, DHB reductase
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What cofactors are required for Tyr to Dopa
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THB, NADP, DHB reductase
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What cofactors are required for Dopa to dopamine
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vit. B6
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What cofactors are required for dopamine to NE
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Vit. C
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What cofactors are required for NE to E
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SAM
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What else does tyrosine produce
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thyroxine
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what does dopa produce
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melanin
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what does tryptophan and its derivatives produce
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Niacin --> NAD, NADP
Serotonin --> melatonin |
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What does histidine produce
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histamine
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what does glycine produce
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porphyrin ---> heme
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what does arginine produce
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NO, urea, creatine
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what does glutamate produce
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GABA< glutathione
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What does niacin synth require
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B6
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what do hisitine, glucose and glutamate derivatives require for synth
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B6
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What does serotonin synth require
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BH4
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OTC deficiency - findings
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orotic acid in blood in urine, dec. BUN, sympt of hyperammonemia
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Essential amino acids
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glucogenic: Met, Val, Arg, His
glucogenic/ketogenic: Ile, Phe, Thr, Trp Ketogenic: Leu, Lys |
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Acid amino acids
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Asp, glu (neg. charge at body pH)
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basic amino acids
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His, Lys, Arg (most basic)
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Which cells contain only aldose reductase
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schwann cells, lens, retina, kidneys
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which cells contain both aldose reductase and sorbitol dehydrogenase
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liver, ovaries, other aminal vesciles
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Rate determining step in glycolysis
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PFK-1
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Rate determining step in gluconeogenesis
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Fructose 1,6, bisphophatase
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Rate determining step in TCA cycle
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isocitrate dehydrogenase
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Rate determining step in glycogen synthesis
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glycogen synthase
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Rate determining step in glycogenolysis
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glycogen phosphorylase
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Rate determining step in HMP shunt
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glucose 6-P dehydrogenase (G6PD)
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Rate determining step in de novo pyrimidine synthesis
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CPS 2
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Rate determining step in de novo purine synthesis
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glutamine PRP amidotransferase
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Rate determining step in urea cycle
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CPS I
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Rate determining step in FA synthesis
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acetyl-CoA carboxylase
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Rate determining step in FA oxidation
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carnitine acyltransferase I
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Rate determining step in ketogenesis
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HMG-CoA synthase
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Rate determining step in cholesterol synthesis
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HMG-CoA reductase
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Rate determining step in bile acid synthesis
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7 alpha-hydroxylase
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