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19 Cards in this Set
- Front
- Back
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Tay Sachs
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Missing enzyme: Hexoaminidase
Accumulated lipd: Ganglioside GM2 |
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Gauchers
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adult onset
Missing enzyme: B-Glucosidase Accumulated lipd: Glucosyl-ceramide |
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Niemann Pick type A
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missense mutation
deficiency: sphingomyelinase accumulation of sphingomyelin within lysosomes in macrophage system |
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essential fatty acids
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linoleic and linolenic acid
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production of bile acids
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from cholesterol
hydroxyl groups are inserted dbl bond of cholesterol ring is reduced hydrocarbon chain is shortened by 3 carbons carboxyl group in introduced at the end of the chain |
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primary bile acids
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chenodeoxycholic acid
cholic acid |
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secondary bile acids
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lithocholate (from chenodeoxycholic acid) and deoxycholate
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rate limiting step in bile acid synthesis
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introduction of hydroxyl group at carbon 7 by cholesterol-7-alpha-hydroxylase
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cholesterol-7-alpha-hydroxylase
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ER associated cytochrome P450 enzyme
found on only in the liver down regulated by cholic acid upregulated by cholesterol |
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secretion of bile acids from the bile caniculis is mediated by the number of
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ABC cassette transporters
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cholestasis
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reduction in bile acid secretion
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Dubin Johnson Syndrome
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cogenital cholestasis
accompanied by hyperbilirubinia |
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fatty acyl-COA synthetase
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fatty acid activation in intestine
FA are transformed to acyl-COA thioesters |
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what two apoB molecules come from the same gene through RNA editing
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apoB48 and apoB100
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abetalipoprotenemia
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Microsomal triglyceride transfer protein (MTP) is missing
cannot make chylomicrons severe malabsorption of trigs and fat soluble vitamins |
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chylomicron remnants
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chylomicrons depleted of TGs
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rate limiting step in fatty acid biosynthesis
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acetyl COA carboxylase
converts acetyl COA and CO2 to malonyl COA |
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ACC regulation
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short term: increased with citrate
decreased with palmoyl COA glucagon decreases via phosphorylation insulin increases activity long term: diet stimulates SREBP1 which stimulates ACC transcription lo calorie diets inhibit SREBP |
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fatty acid synthetase
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converts acetyl COA and malonyl COA to palmitate
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