Random Charts Flashcards
Steps @ which mutations occur example: Transcription
thalassemias, hereditary persistance of fetal Hb
Steps @ which mutations occur example: Translation
thalassemias
Steps @ which mutations occur example: Post translational modification
i-cell disease
Steps @ which mutations occur example: protein folding
hemoglobinopathies
Steps @ which mutations occur example: Monomer–>holomer
all types of osteogenesis imperfecta
Steps @ which mutations occur example: Localization of protein
hypercholesterolemia
Steps @ which mutations occur example: cofactor binding to the holoenzyme
homocystineuria
Steps @ which mutations occur example: function of a correctly folded, assembled, and localized protein produced in normal amounts
HbKempsey
If your patient has a G6PD deficiency, what should you NEVER give them?
antimalarial drugs: sulfonamides, dapsone
If your patient has acute intermittent porphyria, what drugs should be avoided?
barbituates
If a patient has galactosemia, how should it be treated?
eliminate galactose from diet
Treatment for hypothyroidism?
thyroxine replacement
Treatment for biotindase deficiency?
replace biotin
Treatment for urea cycle deficiency
sodium benzoate
Treatments for a heterozygous person with hypercholesterolemia?
oral resins (diversion) and statins (inhibition)
