Phenylketonuria

Question 0

Enzyme deficient in phenylketonuria

Answer 0

Phenylalanine hydroxylase

Question 1

most common clinically encountered inborn error of amino acid metabolism

Answer 1

Phenylketonuria

Question 2

In PKU, there is impaired conversion of phenylalanine to

Answer 2

Tyrosine

Question 3

reduced form of phenylpyruvate,

Answer 3

Phenyllactate

Question 4

Hyperphenylalanenemia may also be caused by deficiencies in the enzymes that synthesize or reduce the coenzyme

Answer 4

Tetrahydrobioptrein BH4

Question 5

small fraction of PKU is a result of a deficiency in either

Answer 5

dihydropteridine (BH2) reductase or

BH2 synthetase

Question 6

BH4 is also required for

Answer 6

Tyrosine hydroxylase

Tryptophan hydroxylase

Question 7

due to deficiency of Phynylalanine hydroxylase

Answer 7

Type 1 or classical PKU

Question 8

due to deficiency of dihydrobiopterin reductase

Answer 8

Type 2 and 3

Question 9

due to defects in dihydrobiopterin biosynthesis

Answer 9

Type 4and 5

Question 10

rare disorder of tyrosine catabolism

Answer 10

Alkaptonuria

Question 11

Alkaptonuria deficiency in

Answer 11

homogentisic acid oxidase.

Question 12

Enzyme in conversion of 1st reaction, phenylalanine to tyrosine

Answer 12

Phenylalanine hydroxylase

Question 13

Used in conversion of 1st reaction, phenylalanine to tyrosine

Answer 13

O2 and NADH + H

Question 14

By product in conversion of 1st reaction, phenylalanine to tyrosine

Answer 14

NAD+

H2O

Question 15

Disease in conversion of 1st reaction, phenylalanine to tyrosine

Answer 15

PKU

Question 16

Enzyme in 2nd reaction, tyrosine to hydroxyphenylpyruvate

Answer 16

Tyrosine aminotransferase

Question 17

Used in 2nd reaction, tyrosine to hydroxyphenylpyruvate

Answer 17

Alpha ketoglutarate

Question 18

By product in 2nd reaction, tyrosine to hydroxyphenylpyruvate

Answer 18

Glutamate

Question 19

Disease in 2nd reaction, tyrosine to hydroxyphenylpyruvate

Answer 19

Tyrosinemia 2

Question 20

Enzyme in 3rd reaction, hydroxyphenyl pyruvate to homogentisate

Answer 20

Hydroxyphenyl pyruvate dioxygenase

Question 21

Used in 3rd reaction, hydroxyphenyl pyruvate to homogentisate

Answer 21

O2

Question 22

By product in 3rd reaction, hydroxyphenyl pyruvate to homogentisate

Answer 22

CO2

Question 23

Disease in 3rd reaction, hydroxyphenyl pyruvate to homogentisate

Answer 23

Tyrosinemia 3

Question 24

Enzyme in 4th reaction, homogentisate to maleyacetoacetate

Answer 24

Homogentisate 1,2 dioxygenase

Question 25

Used in 4th reaction, homogentisate to maleyacetoacetate

Answer 25

O2

Question 26

By product in 4th reaction, homogentisate to maleyacetoacetate

Answer 26

H

Question 27

Disease in 4th reaction, homogentisate to maleyacetoacetate

Answer 27

Alkaptonuria

Question 28

Last reaction disease

Answer 28

Tyrosinemia 1

Question 29

Fumarlyacetoacetate to fumarate

Answer 29

Fumaryl acetoacetate

Question 30

Phenylalanine to phenylpyruvate enzyme

Answer 30

Aminotransferase

Question 31

Phenylpyruvate leads to

Answer 31

Phenyllactate | Phenylacetate

Question 32

Phenylalanine to phenylpyruvate used and by product

Answer 32

Pyruvate Alanine

Question 33

Location of folling disease or PKU

Answer 33

Chromosome 12q22-24

Question 34

PKU is inherited

Answer 34

Autosomal recessive trait

Question 35

mutation of the enzyme Phenylalanine Hydroxylase

Answer 35

Genotype

Question 36

Mental Retardation, Seizures, “Mousy Odor”,

Answer 36

Phenotype

Question 37

Alkaptonuria cofactors

Answer 37

Fe and O2

Question 38

 Low levels of tyrosine leads to lowered production of the

Answer 38

Pigment melanin