Open Question Type 3: Enzymatic Defects & Pathology
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11 Terms
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LDL receptor
Hypercholesterolemia
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Glutamate decarboxylation enzyme
Altered GABA neurotransmission
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Lipoprotein lipase
Hypertriglyceridemia
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Acyl-CoA dehydrogenase
Liver steatosis (fatty liver)
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Citrate lyase
Defect in fatty acid and cholesterol biosynthesis
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Glucose-6-phosphatase
Hypoglycemia
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Glucose-6-P dehydrogenase
Erythrocyte glutathione remains oxidised
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PFK2
Lack of response of glycolysis
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Phosphorylase b kinase
Glycogen accumulation in liver
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Pyruvate dehydrogenase
Lactic acidosis
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Succinyl-CoA acetoacetate transferase
Ketonemia
Note 
Flashcards (44)