PKU Part 1

Question 1

Inborn

Answer 1

Of genetic origin

Question 2

Errors

Answer 2

genetic defects that lead to defective proteins with an inability to function normally

Question 3

Metabolism

Answer 3

The enzyme-catalyzed reactions that interconvert biochemical substances

Question 4

Enzyme

Answer 4

A biological catalyst

Question 5

-uria

Answer 5

Something unusual; a lot of inborn errors end with “-uria”

Question 6

Anabolic (Anabolism)

Answer 6

Synthesis; requires energy; building structures (molecules)

Question 7

Catabolic (Catabolism)

Answer 7

Breakdown; liberates energy; degreading structures of molecules

Question 8

Cata-

Answer 8

Greek root for breaking down

Question 9

Who first postulated origin of disorders?

Answer 9

Archibald Garrod

Question 10

Alkaptonuria

Answer 10

A very rare inherited disorder that prevent that body fully breaking down tyrosine and phenylalanine

Question 11

PKU Symptoms (1 of 4)

Answer 11

Musty odor (Cause by phenylacetate)

Question 12

PKU Symptoms (2 of 4)

Answer 12

Can exhibit mild albinism

Question 13

PKU Symptoms (3 of 4)

Answer 13

Seizures soon after birth if undiagnosed

Question 14

PKU Symptoms (4of 4)

Answer 14

Brain damage and mental retardation if left untreated

Question 15

Aspartame (Dipeptide)

Answer 15

Two amino acids put together (phenylalanine and aspartic acid); 200x sweeter than sucrose