Genetics/Feddock Main Points Flashcards
1
Q
Abetalipoproteinemia
A
FTT, Acanthocytosis, Steatorrhea, def in microsomal triglyc transfer protein
2
Q
Gaucher’s Disease
A
AR, def in glucocerebrodiase
HSM, pancytopenia, aseptic necrosis of femur
3
Q
sphingomyelinase
A
Niemann Pick
4
Q
hexoaminidase A
A
Tay Sach
5
Q
Krabbe Disease
A
galactocerebrodiase
globoid cells
6
Q
Fabry
A
alpha-galactosidase
progressive renal failure
7
Q
NF-1
A
chromosome 17
cafe au lait spots, lisch nodules
neurofibromas in skin
pheochromocytoms
8
Q
VHL
A
chromsome 3 cagenous hemangiomas bilateral renal cell carcinoma hemangioblastoma in retina, brainstem, cerebellum pheochromocytomas