pathologies

Question 1

describe lactose intolerance

Answer 1

a decrease in lactase leads to an accumulation of lactose. this can cause cramping, gas, bloating

Question 2

describe hurler syndrome including the enzyme involved

Answer 2

lowered alpha-L-irunidase leads to an accumulation of heparan sulfate. this causes hepatomegaly, gargoylism, corneal clouding, developmental delay, coarse features, airway obstruction

Question 3

describe RDS

Answer 3

dipalmitoyl phosphatidylcholine is a major component of lung surfactant. if a fetus is borm prematurely, they won’t have developed this yet. as a result there is lower secretion of lung surfactant, and the lungs can collapse. signs include retraction, nasal flaring, tachycardia, cyanosis

Question 4

describe Tay-Sachs

Answer 4

deficiency in hexoaminidase A leads to n accumulation of GM2. this causes cherry red spots on the retina, developmental delay, and psychomotor dysfunction