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5 Cards in this Set

  • Front
  • Back
ADA deficiency
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
Malnourished - low thiamin. TPP falls. Transketolase activity stops.

Neurological and muscular impairment. Paralysis and/or congestive heart failure.

Vitamin replenishment
Meth. inhibits dihydrofolate reductase. THF not regenerated, nucleotide synthesis stops.

Effective against rapidly dividing cancer cells.
Fabry's disease
Lack of alpha-galactosidase

Adolescent onset. Burning pain.
Heart attacks, kidney disease, strokes with age.
Familial Hypercholesterolemia
Genetic lack of working LDL receptor. Autosomal dominant.

Elevated LDL, atherosclerosis, early heart disease, tendon xanthomas.

Diet/excercise, statins, sequestrans, plasmapharesis, liver transplant.