MIX Flashcards
Von Gierke Disease (type I) mutated enzyme
glucose-6-phosphatatse
Pompe disease (type II) mutated enzyme
lysosomal alpha-1,4-glucosidase
Cori Disease (type III) mutated enzyme
debranching enzyme (alpha-1,6-glucosidase)
McArdle disease (type V) mutated enzyme
skeletal muscle glycogen phosphorylase
Fabry disease mutated enzyme
alpha-galactosidease
Gaucher disease mutated enzyme
glucocerebrosidase
Niemann-Pick mutated enzyme
sphingomyelinase
Tay-Sachs mutated enzyme
hexosaminidase A
Krabbe disease mutated enzyme
galactrocerebrosidase
metachromic leukodystrophy mutated enzyme
arylsulfatase A
Hurler syndrome mutated enzyme
alpha-L-iduronidase
Hunter syndrome mutated enzyme
iduronate sulfatase
_1 (alpha1) receptor action
increase vascular smooth muscle contraction, increase pupillary dilator muscle contraction (mydriasis), increase intestinal and bladder sphincter muscle contraction
_2 (alpha2)receptor action
decrease sympathetic outflow, decrease insulin reslease, decrease lipolysis, increase platelet aggregation, decrease aqueous humor production
_1 (beta1) receptor action
increase heart rate, increase contractility, increase renin release, increase lipolysis
_2 (beta2) receptor action
vasodilation, bronchodilation, increase lipolysis, increase insulin release, decrease uterine tone (tocolysis), ciliary muscle relaxation, increase aqueous humor production
M1 receptor action
CNS, enteric nervous system
M2 receptor action
decrease heart rate and contractility of atria
M3 receptor action
increase exocrine gland secretions (lacrimal, salivary, gastric acid), increase peristalsis of gut, increase bladder contraction, bronchoconstriction, increase pupillary sphincter muscle contraction (miosis), ciliary muscle contraction (accomodation)
D1 receptor action
relaxes renal vascular smooth muscle
D2 receptor action
modulates transmitter release, especially in the brain
H1 receptor action
increases nasal and bronchial mucus production, increase vascular permeability, contraction of bronchioles, pruritus, pain
H2 receptor action
increase gastric acid secretion
V1 receptor action
increase vascular smooth muscle contraction