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13 Cards in this Set
- Front
- Back
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Glycogen storage diseases
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Von-Gierke- G6 phosphatase fasting hypoglycemia, hepatomegaly
Pompe- cardiomegaly and systemic fidindings, lysosomal alpha-1,4 glucosidase Cori's dz- milder form, affects debranching enzyme, still have gluconeogenesis McArdle's dz-increased glycogen in muscle can't break down |
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Sphingolipodses
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fabry's (XLR, neuopathy), Gacuher (most common, hepatoslenomegaly), Niemann-Pick (progressive neurodegernation, cherry red macula), Tay Sach's- progressive neurodegernation, Krabbe;s dz, metachromatic leukodystrophy
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Mucopolysaccharidoses
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Hurler's developmental delay, gargolyism, corneal clouding hepatosplenomegaly. Hunter's syndrome- milder hrulers, XLR
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rate limiting enzyme of cholesterol synthesis?
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HMG-CoA reductase
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lipoprotein lipase
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degrades TGs circulating in chylomicrons and VLDLs
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Hormone sensitive lipase
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degrades TG stored in adipocytes
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LCAT
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catalyzes esterification of cholesterol
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Lipoprotine lipase deficiency causes
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pancreatitis, hepatosplenomegaly, xanthomas, increased chylomicrons, TGs and cholesterol
responsible for degadation of TGs in chylomicrons and VLDL |
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Abetaliporoteinemia
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inability to synthesize lipoproteins, AR, acumulation in enterocytes, inability to exposrt absorbed lipids, failure to thrive, steathorhea, ataxia, night blindness
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Glucagon vs. Insulin
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Glucagon phosphorylates activates glycogen phosphorylase
Insulin- dephopshorylates, activates proetin phsophatease |
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Ornithine transcarbamoylase deficiency
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usea cycele disorder, WLR, can't eliminate ammonia, orotic acid in urine, sx of hyperammonemia
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essential fructosuria vs. fructose intolerance
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EF- defect in fructokinase, benign
FI- defect in aldolase B, hypoglcemia, jaundice, cirrhosis, build up of ffurctose 1 phsophate and is toxic |
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Galactokinase defieicnt vs. galactosemia
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GD- galactokinase deficit, mild condition AR, cataracts
Galactosemia- missing galactose-1-hsohate uridytransferase, toxic stuff accumulates causes liver probs, failure to thrive |
