Term
| Glucose 6 phosphate dehydrogenase deficiency |
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Definition
| x-linked gene. leads to 1)reduced synthesis of NADPH --> 2) inhibition of the reduction glutathione --> hemolytic anemia and protection against P. falciparum malaria |
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Term
|
Definition
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|
Term
| Galactosemia - galactokinase deficiency |
|
Definition
| galactose accumulates --> reduces to galactitol-->forms crystals in the eyes, cataracts |
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|
Term
| Galactosemia-galactose 1P uridyl transferase |
|
Definition
| galactose 1-phosphate accumulates, leads to liver damage |
|
|
Term
| overactive Aldolase reductase |
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Definition
| in diabetes, creates more sorbitol from glucose than can be processed by sorbitol dehydrogenase --> sorbitol crystals in kidneys |
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Term
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Definition
| In glucoronic acid pathway, absence of xylulose reductase --> excess xylulose excreted in urine (non-lethal) |
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|
Term
| Hereditary fructose intolerance |
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Definition
| fructose aldolase deficiency --> fructose 1P accumulates--> depletion of ATP in liver |
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|
Term
|
Definition
| Fructokinase deficiency, excess fructose excreted in urine (non-lethal) |
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