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5 Cards in this Set
- Front
- Back
ADA deficiency
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Mechanism: genetic lack of working adenosine deaminase for purine salvage.
SCID: no T/B cell growth Frequent infections, v/b/f + resp. prob. Drugs for infection, bovine ADA + IgG injections, bone marrow transp., gene therapy |
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Beriberi
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Malnourished - low thiamin. TPP falls. Transketolase activity stops.
Neurological and muscular impairment. Paralysis and/or congestive heart failure. Vitamin replenishment |
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Cancer/methotrexate
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Meth. inhibits dihydrofolate reductase. THF not regenerated, nucleotide synthesis stops.
Effective against rapidly dividing cancer cells. |
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Fabry's disease
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Lack of alpha-galactosidase
Adolescent onset. Burning pain. Heart attacks, kidney disease, strokes with age. |
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Familial Hypercholesterolemia
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Genetic lack of working LDL receptor. Autosomal dominant.
Elevated LDL, atherosclerosis, early heart disease, tendon xanthomas. Diet/excercise, statins, sequestrans, plasmapharesis, liver transplant. |