CHAP 7

Question 1

Who introduced the idea that a minority of varients in enzymes cause disease?

Answer 1

Archibald Garrod

Question 2

Dysfunction of Phenylalanine hydroxylase results in what?

Answer 2

PKU, phenylalanine can’t be converted to tyrosine

Question 3

Dysfunction of tyrosinase results in what?

Answer 3

albinism, dopamine can’t be converted into melanin

Question 4

Dysfunction of homogentisic acid oxidase results in what?

Answer 4

AKU, homogentisic acid is not converted into maleylacetoacetate

Question 5

Dysfunction of fumarylacetoacetate hydrolase results in what?

Answer 5

tyrosinemias, Fumarylacetoacetate is not broken down into fumarate and acetoacetate

Question 6

What are the four primary groups of biomolecules?

Answer 6

Proteins, nucleic acids, carbohydrates, and lipids

Question 7

What are the three principal monosaccharides?

Answer 7

galactose, glucose, and fructose

Question 8

What enzymatic defect most commonly causes glactosemia?

Answer 8

GAL-1-P uridyl transferase, affected person cannot convert galactose into glucose

Question 9

What is HFI caused by?

Answer 9

deficiency of fructose 1,6- biphosphate aldolase in liver, kidney cortex, and small intestine

Question 10

What causes lactose intolerance?

Answer 10

Lactase-phlorizin hydrolase (LPH) activity

Question 11

What are the two organs most severely affected by glycogen storage disorders?

Answer 11

liver and skeletal muscles

Question 12

What glycogen storage disorder can affect the cardiac muscle?

Answer 12

Pompe disease (Type II)

Question 13

What is the most common cause of PKU?

Answer 13

Mutation in the gene that codes for phenylalanine hydroxylase

Question 14

Those affected with MCAD must restrict their diet of what?

Answer 14

fats