Newborn Tests

Question 1

what are some symptoms of enzyme deficiency?

Answer 1

Poor feeding
Unresponsiveness
Lethargy
Little muscle tone
Seizures
Stunted growth

Question 2

what history strongly suggests an enzyme deficiency?

Answer 2

parental consanguinity
inborn errors within family

Question 3

why should we wipe away the first drop of blood during a NBS screening?

Answer 3

can falsely elevate glucose

Question 4

when are the 2 rounds of NBS screenings done?

Answer 4

at birth
1-2 weeks of age

Question 5

what is the rule of thumb for obtaining blood and urine samples screening tests of an older child?

Answer 5

6-8 hours fasting

Question 6

what kinds of tubes should be used for screening tests for an older child?

Answer 6

heparin tubes

Question 7

how should a heparin tube sample be handled for a screening test for an older child?

Answer 7

store frozen until testing

Question 8

what is the most common inborn error of metabolism?

Answer 8

phenylketonuria (PKU)

Question 9

what is the pathology behind phenylketonuria?

Answer 9

deficiency in phenylalanine hydroxylase - cannot metabolize phenylalanine = accumulates in blood and brain

Question 10

what deficiency can cause intellectual disability, psychiatric disorder, and seizures?

Answer 10

phenylketonuria

Question 11

what blood level indicates too much phenylalanine?

Answer 11

> 20 mg/dL

Question 12

a patient presents with tremors/jerking of extremities, stunted growth, skin rashes, musty odor, and fair skin and blue eyes. what are they experiencing?

Answer 12

phenylketonuria

Question 13

what is the treatment bases for PKU?

Answer 13

reduce natural protein intake

Question 14

what is a medication for PKU that must be used in conjunction with a low phenylalanine diet?

Answer 14

kuvan

Question 15

what is a PKU medication that does not have to be used in conjunction with low phenylalanine diet?

Answer 15

palynziq

Question 16

which confirmatory PKU test looks for growth using agar?

Answer 16

guthrie’s test

Question 17

which confirmatory PKU test gives a bluish green color to urine if positive?

Answer 17

FeCl3 test

Question 18

a deficiency in tyrosine aminotransferase that leads to the inability to metabolize tyrosine, accumulating in the blood, which is toxic to cells

Answer 18

tyrosinemia (type II)

Question 19

what deficiency can lead to low birth weight, skin, eye, intellectual problems, and liver/kidney damage?

Answer 19

tyrosinemia

Question 20

what is the treatment for tyrosinemia?

Answer 20

low protein diet

Question 21

a patient presents with corneal ulcers, corneal opacity, palmar hyperkeratosis, plantar hyperkeratosis, and hyperhidrosis. what are they likely experiencing?

Answer 21

tyrosinemia

Question 22

deficiency in BCKAD = inability to break down branched chain amino acids and build up causes toxicity in several organ systems

Answer 22

maple syrup urine disease

Question 23

what deficiency can lead to overwhelming illness at birth, acidosis, poor sucking ability, and sweet-smelling urine?

Answer 23

maple syrup disease

Question 24

what is the treatment for maple syrup urine disease?

Answer 24

dietary restriction of leucine, isoleucine, and valine

Question 25

a patient presents with lack of appetite, slim, poor sucking ability, sweat smell, hypertonia/hypotonia, irritability and loud cry. what are they likely experiencing?

Answer 25

maple syrup urine disease

Question 26

deficiency in cystathionine synthase (CBS) that leads to the inability to metabolize homocysteine from methionine

Answer 26

homocystinuria (HCU)

Question 27

what deficiency can lead to damaged eyes, damaged skeletal, CNS, and vascular system, bone disease, and blood clots?

Answer 27

homocystinuria

Question 28

what is the treatment for homocystinuria? (3)

Answer 28

pyridoxine (vitamin B6) low methionine diet betaine med

Question 29

what is homocystinuria sometimes confused with?

Answer 29

marfan's disease

Question 30

deficiency in galactokinase (GALK) or GALT, leading to the inability to break down galactose to glucose, resulting in no energy

Answer 30

galactosemia

Question 31

what is the treatment for galactosemia?

Answer 31

galactose- and lactose-free diet

Question 32

a patient presents with cataracts, jaundice, enlarged liver/failure, and kidney damage. what are they likely experiencing?

Answer 32

galactosemia