Clinical Chemistry 2- Quiz 30 Newborn and Pediatric

Elevated sweat chloride is associated with which disease?

Cystic fibrosis

In addition to genetic mutation analysis, the laboratory investigation of lipid storage diseases involves measurement of metabolite levels in

white cells and cultured fibroblasts.

Which inborn error of metabolism is associated with a defect in branched-chain-α-ketoacid dehydrogenase?

Maple syrup urine disease

Laboratory evidence of which protein is diagnostic of cystic fibrosis?

Cystic fibrosis transmembrane conductance regulator protein

____________ has a genetic basis, requiring that all newborns be tested.

Cystic fibrosis

A sweat chloride result > 60 mmol/L correlates with which of the following pediatric conditions?

Cystic fibrosis

Pediatricians recommend the use of Tylenol over aspirin in children in order to prevent which of the following complications characterized by hyperammonemia?

Reye's syndrome

What is the specimen of choice and principle of the test for diagnosing congenital rubella?

Neonatal serum for the detection of IgM antibodies

The glomerular filtration rate in the neonate is what percentage of the adult?

25%

Which of the following is measured by tandem mass spectrometer when screening for phenylketonuria?

Amino acids

Which of the following conditions is likely to occur after a diabetic pregnant female on a regimented insulin schedule delivers her baby?

Neonatal hypoglycemia

Which of the following blood-gas results would be expected in a premature infant with respiratory distress syndrome?

Increased pCO2, decreased pH

A neonatal bilirubin of 18.0 mg/dL is held in the total laboratory automation middleware. What is the next step?

Call the critical result

Pediatric patients typically will have elevated results for which of the following enzymes due to bone growth?

Alkaline phosphatase

A newborn had the following urinalysis test results. What is the most probable explanation for these results?

Galactosemia

How many essential amino acids do infants require?

10