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Lab Med > Newborn Tests > Flashcards

Newborn Tests Flashcards

1
Q

what are some symptoms of enzyme deficiency?

A

Poor feeding
Unresponsiveness
Lethargy
Little muscle tone
Seizures
Stunted growth

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2
Q

what history strongly suggests an enzyme deficiency?

A

parental consanguinity
inborn errors within family

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3
Q

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

A

can falsely elevate glucose

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4
Q

when are the 2 rounds of NBS screenings done?

A

at birth
1-2 weeks of age

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5
Q

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

A

6-8 hours fasting

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6
Q

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

A

heparin tubes

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7
Q

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

A

store frozen until testing

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8
Q

what is the most common inborn error of metabolism?

A

phenylketonuria (PKU)

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9
Q

what is the pathology behind phenylketonuria?

A

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

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10
Q

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

A

phenylketonuria

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11
Q

what blood level indicates too much phenylalanine?

A

> 20 mg/dL

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12
Q

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

A

phenylketonuria

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13
Q

what is the treatment bases for PKU?

A

reduce natural protein intake

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14
Q

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

A

kuvan

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15
Q

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

A

palynziq

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16
Q

which confirmatory PKU test looks for growth using agar?

A

guthrie’s test

17
Q

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

A

FeCl3 test

18
Q

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

A

tyrosinemia (type II)

19
Q

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

A

tyrosinemia

20
Q

what is the treatment for tyrosinemia?

A

low protein diet

21
Q

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

A

tyrosinemia

22
Q

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

A

maple syrup urine disease

23
Q

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

A

maple syrup disease

24
Q

what is the treatment for maple syrup urine disease?

A

dietary restriction of leucine, isoleucine, and valine

25
Q

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

A

maple syrup urine disease

26
Q

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

A

homocystinuria (HCU)

27
Q

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

A

homocystinuria

28
Q

what is the treatment for homocystinuria? (3)

A

pyridoxine (vitamin B6)
low methionine diet
betaine med

29
Q

what is homocystinuria sometimes confused with?

A

marfan’s disease

30
Q

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

A

galactosemia

31
Q

what is the treatment for galactosemia?

A

galactose- and lactose-free diet

32
Q

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

A

galactosemia

Lab Med (19 decks)

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