Mon July 13 Flashcards
how are pyrimidine dimers removed?
nucleotide excision repair
what type of DNA repair is defective in xeroderma pigmentosum?
nucleotide excision repair
abiraterone MOA?
Inhibits 17-alpha-hydroxylase, thus decreasing DHEA production. -Useful in prostate cancer
which enzyme is defective in PKU?
phenylalanine hydroxylase or BH4 cofactor
Presentation of PKU?
Intellectual disability Growth retardation Seizures Fair complexion Eczema Musty body odour
Treatment of PKU?
Avoidance of phenylalaine
Increased tyrosine intake
Tetrahydrobiopterin supplementation
Which sweetener must patients with PKU avoid?
aspartame - contains phenylalanine
Which enzyme is defective in alkaptonuria?
homogentisate oxidase
Which pathway is disrupted in alkaptonuria?
Conversion of tyrosine to fumarate
presentation of alkaptonuria?
blue-black connective tissue, ear cartilage and sclera - urine turns black on prolonged exposure to air
-arthralgias
proopiomelanocortin is cleaved to produce which substances?
beta-endorphins, ACTH and MSH
what is aripiprazole?
An antipsychotic drug used in schizophrenia and bipolar I
which enzymes require the cofactor thiamine?
pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase and transketolase
inheritance of VHL?
autosomal dominant
what is systemic mastocytosis?
Clonal mast cell proliferation in the bone marrow, skin and other organs
systemic mastocytosis is associated with which mutation?
mutations in the KIT receptor tyrosine kinase
pathophys of systemic mastocytosis?
Mast cells overproduce tryptase
- they have excessive histamine release leading to flushing, syncope, hypotension, urticaria, etc.
- the histamine induces gastric acid secretion leading to ulceration
- the excess acid also inhibits pancreatic and intestinal enzymes, leading to diarrhea