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23 Cards in this Set
- Front
- Back
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Associated with hymolytic anemia. Inability to maintain activity of Na/K ATPase leads to swelling and lysis. What is this due to and what enzyme deficiency is it 95% of the time?
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Glycolytic enzyme deficiency. 95% caused by deficiency in pyruvate kinase, RBCs metabolize glucose anaerobically (no mitochondria) and thus depend soley on glycolysis
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Findings of vomitting, rice water stools and garlic breath. This poison inhibits lipoic acid. What poison is this and where what deficiency may it cause.
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Aresnic inhibits lipoic acid. An cofactor for pyruvate dehydrogenase. Other requirements are
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Findings of neurological defects. Causes backup of substrates (pyruvate and alinine) resulting in lactic acidosis. May be congenital or acquired (as in alcoholics due to B1 deficiency)
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Pyruvate dehydrogenase deficiency
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Treatment of pyruvate dehydrogenase deficiency?
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Inc. intake of ketogenic nutrients (e.g., high fat content or inc. lysine and leucine)
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Rotenone, CN-, antimycin A and Carbon monoxide.
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Electron transport inhibitors causing a decrease in proton gradient and blockage of ATP synthesis.
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Oligomycin
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ATPase inhibitors. Directly inhibits mitochondrial ATPase causing an inc. proton gradient. No ATP is produced because electron transport stops.
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2,4-DNP, aspirin and thermogenin in brown fat.
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Uncoupling agents. Increases permeability of membrane, causing a decrease in proton gradient and increase in O2 consumption. ATP synthesis stops, but electron transport continues. Produces heat.
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What are the enzymes of gluconeogenesis?
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P Pyruvate carboxylase
P PEP carboxykinase F Fructose-1.6- bisphosphatase G Glucose-6-phosphate Pathway Produces Fresh Glucose |
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An x-linked recessive disorder; the most common human enzyme deficiency; more common in blacks (inc. malarial resistance)
Presents as hemolytic anemia |
Glucose 6 phosphate dehydrogenase deficiency
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What are some precipitating factors to a G6PD deficiency hemolytic anemia.
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Oxifizing agents such as fava beans, sulfonamides, primaquine and anit TB drugs.
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What are Heinz bodies and what are they characteristic of?
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Oxidized hemoglobin precipitated within RBCs found in G6PD deficiency
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What are Bite cells and what are they characteristic of?
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Result from the phagocytic removal of Heinz bodies by macrophages in G6PD deficiency.
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Symptoms of hypoglycemia, jaundic, cirrhosis and vomitting. An autosomal hereditary deficiency of aldolase B.
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Fructose intolerance
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Fructose 1 phospate accumulates, causing and decrease in available phosphate, which results in inhibition of glycogenolysis and gluconeogenesis.
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Fructose intolerance
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Involves a defect in fruktokinase
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Essential fructosuria
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What is the mode of inheritance of fructose metabolism disorders?
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AR
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Fructose appering in blood and urine? What is this and what is it a deficiency of?
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Essential fructosuria due to a defect in fructokinase (fructose does not enter cells and is precipitated out in blood and urine.
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Absence of galactose-1-phosphate uridyltransferase.
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Classical galactosemia.
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Symptoms of failure to thrive, jaundice, hepatomegaly, infantile cataracts, mental retardation. Damage is cause by galactitol.
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Classic galactosemia caused by galactose 1 phosphate uridyl transferase
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Treatment of galactose metabolism disorders?
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Exclude galactose and lactose from diet.
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Mode of inheritance of galactose metabolism disorders?
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AR
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Bloating, cramping and osmotic diarrhea. Due to loss of brush-border enzyme and may also follow gastroenteritis. More common in african americans and asians.
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Lactase deficiency
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Takes the brunt of oxidation hits for RBC's, needs G6PD to keep it reduced.
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Glutathione
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