Newborn Tests Flashcards
what are some symptoms of enzyme deficiency?
Poor feeding
Unresponsiveness
Lethargy
Little muscle tone
Seizures
Stunted growth
what history strongly suggests an enzyme deficiency?
parental consanguinity
inborn errors within family
why should we wipe away the first drop of blood during a NBS screening?
can falsely elevate glucose
when are the 2 rounds of NBS screenings done?
at birth
1-2 weeks of age
what is the rule of thumb for obtaining blood and urine samples screening tests of an older child?
6-8 hours fasting
what kinds of tubes should be used for screening tests for an older child?
heparin tubes
how should a heparin tube sample be handled for a screening test for an older child?
store frozen until testing
what is the most common inborn error of metabolism?
phenylketonuria (PKU)
what is the pathology behind phenylketonuria?
deficiency in phenylalanine hydroxylase - cannot metabolize phenylalanine = accumulates in blood and brain
what deficiency can cause intellectual disability, psychiatric disorder, and seizures?
phenylketonuria
what blood level indicates too much phenylalanine?
> 20 mg/dL
a patient presents with tremors/jerking of extremities, stunted growth, skin rashes, musty odor, and fair skin and blue eyes. what are they experiencing?
phenylketonuria
what is the treatment bases for PKU?
reduce natural protein intake
what is a medication for PKU that must be used in conjunction with a low phenylalanine diet?
kuvan
what is a PKU medication that does not have to be used in conjunction with low phenylalanine diet?
palynziq
which confirmatory PKU test looks for growth using agar?
guthrie’s test
which confirmatory PKU test gives a bluish green color to urine if positive?
FeCl3 test
a deficiency in tyrosine aminotransferase that leads to the inability to metabolize tyrosine, accumulating in the blood, which is toxic to cells
tyrosinemia (type II)
what deficiency can lead to low birth weight, skin, eye, intellectual problems, and liver/kidney damage?
tyrosinemia
what is the treatment for tyrosinemia?
low protein diet
a patient presents with corneal ulcers, corneal opacity, palmar hyperkeratosis, plantar hyperkeratosis, and hyperhidrosis. what are they likely experiencing?
tyrosinemia
deficiency in BCKAD = inability to break down branched chain amino acids and build up causes toxicity in several organ systems
maple syrup urine disease
what deficiency can lead to overwhelming illness at birth, acidosis, poor sucking ability, and sweet-smelling urine?
maple syrup disease
what is the treatment for maple syrup urine disease?
dietary restriction of leucine, isoleucine, and valine
a patient presents with lack of appetite, slim, poor sucking ability, sweat smell, hypertonia/hypotonia, irritability and loud cry. what are they likely experiencing?
maple syrup urine disease
deficiency in cystathionine synthase (CBS) that leads to the inability to metabolize homocysteine from methionine
homocystinuria (HCU)
what deficiency can lead to damaged eyes,
damaged skeletal, CNS, and vascular system, bone disease, and blood clots?
homocystinuria
what is the treatment for homocystinuria? (3)
pyridoxine (vitamin B6)
low methionine diet
betaine med
what is homocystinuria sometimes confused with?
marfan’s disease
deficiency in galactokinase (GALK) or GALT, leading to the inability to break down galactose to glucose, resulting in no energy
galactosemia
what is the treatment for galactosemia?
galactose- and lactose-free diet
a patient presents with cataracts, jaundice, enlarged liver/failure, and kidney damage. what are they likely experiencing?
galactosemia
