PHENYLKETONURIA

Question 1

Phenylketonuria is a disease of

Answer 1

metabolism

Question 2

PKU in an inherited

Answer 2

autosomal recessive trait

Question 3

In PKU, the infant lacks what liver enzyme

Answer 3

Phenylalanine hydroxylase

Question 4

is necessary to convert phenylalanine into tyrosine

Answer 4

Phenylalanine hydroxylase

Question 5

a precursor of epinephrine, T4, and melanin

Answer 5

Tyrosine

Question 6

a breakdown product of phenylalanine

Answer 6

The metabolite phenylpyruvic acid

Question 7

The metabolite phenylpyruvic acid causes the urine to have a

Answer 7

typical musty or “mousy” odor

Question 8

without adequate ____, the child fails to meet average growth standards.`

Answer 8

T4

Question 9

atopic dermatitis

Answer 9

Eczema

Question 10

Tyrosine is necessary for building

Answer 10

*body pigment
*and T4

Question 11

without Tyrosine, the child is

Answer 11

blue-eyed with very fair skin and light blonde hair

Question 12

Infant with ________ needs to be rescreened for PKU at a well-child visit.

Answer 12

Atopic Dermatitis

Question 13

PKU is found in one of every _______ births in the US

Answer 13

10,000 births

Question 14

PKU rarely occurs in people of

Answer 14

Africa or Jewish ancestry

Question 15

If PKU remains untreated, the child will be left with

Answer 15

*an IQ below 20
*muscular hypertonicity
*spasticity
*possible recurrent seizures

Question 16

PKU cannot be detected by amniocentesis because

Answer 16

Phenylalanine levels does not rise in utero

Question 17

can be used for carrier detection and prenatal diagnosis from maternal serium

Answer 17

Recombinant DNA techniques

Question 18

All infants in the United States are screened at birth by

Answer 18

Blood Spot Analysis

Question 19

When are infants screened at birth by Blood Spot Analysis

Answer 19

after receiving 2 full days or breast or formula feedings.

Question 20

Blood Spot Analysis test of infants are repeated at what week

Answer 20

at the second week of life during healthcare visit.

Question 21

has been the main treatment of PKU for over 50 years and remains the main therapy.

Answer 21

Dietary Restriction

Question 22

works by increasing tolerance to phenylalanine

Answer 22

The drug Sapropterin

Question 23

Infants in whom PKU is detected during the first days of life are placed on what formula

Answer 23

Lofenalac

Question 24

formula that is extremely low in phenylalanine

Answer 24

Lofenalac

Question 25

a low amino acid formula can cause stools to be

Answer 25

loose

Question 26

Foods highest in phenylalanine are those that are rich in

Answer 26

protein

Question 27

Foods highest in phenylalanine are those that are rich in protein, such as

Answer 27

*meats
*eggs
*milk

Question 28

Foods low in phenylalanine include

Answer 28

*orange juice
*bananas
*potatoes
*lettuce
*spinach
*peas

Question 29

A formula such as Lofenalac can be used to prepare some foods, such as

Answer 29

*ice cream
*milk shakes
*birthday cakes
*puddings

Question 30

Children need their blood and urine monitored frequently for phenylalanine levels which should be below

Answer 30

below 8 mg per dL

Question 31

Because the diet tends to be high in carbohydrates to replace protein, children need to be screened for

Answer 31

Obesity

Question 32

Prior to pregnancy, it is important to follow what type of diet

Answer 32

strict low-phenylalanine diet for about 3 months before conception and remain on the diet for the duration of pregnancy.

Question 33

Phenylketonuria (PKU), a rare metabolic disorder characterized by

Answer 33

an inability to metabolize the amino acid phenylalanine

Question 34

Plays a critical role in the synthesis of thyroid hormones

Answer 34

Tyrosine

Question 35

Tyrosine synthesize thyroid hormones such as

Answer 35

*triiodothyronine (T3)
*Thyroxine (T4)