Diseases in Metabolism

Question 1

What disease is caused by a deficiency in Acid Sphingomyelinase (A-SMase), an enzyme that breaks down SM?

Answer 1

Neimann-Pick Disease

SpiN

Question 2

Where does SM accumulate and therefore cause damage to in Neimann-Pick disease?

Answer 2

liver, spleen, cns, and bone marrow

Question 3

The hallmark “cherry red spot” in the eye is a sign of what disease? What enzyme is deficient in this disease?

Answer 3

Neimann-Pick Disease

Acid Sphingomyelinase

Question 4

What disease is characterized by elevated levels of cholesterol in the membrane of red blood cells –> rbc lysis?

Answer 4

Spur Cell Anemia

Question 5

An antagonist of what receptor is used to treat alzheimers?

Drug is called mimantine/namenda

Answer 5

glutamate receptor

Question 6

Puffer fish and topical anesthetics block what membrane structures?

Answer 6

Sodium channels

Question 7

In Cystic Fibrosis, what type of protein is defective?

Answer 7

chloride channel