What is true regarding FAS and NAS?

Choice A reason:

This statement is incorrect because special lights are used to treat jaundice, not PKU. Jaundice is a condition that causes yellowing of the skin and eyes due to high levels of bilirubin in the blood. Bilirubin is a waste product that is normally removed by the liver. Special lights help break down bilirubin so that it can be excreted from the body.

Choice B reason:

This statement is correct because PKU is a genetic disorder that can be corrected by diet. PKU is caused by a lack of an enzyme that breaks down phenylalanine, an amino acid found in protein-rich foods. Phenylalanine can build up in the blood and cause brain damage and other health problems if not treated. A diet that is low in phenylalanine and high in a special formula can prevent these complications.

Choice C reason:

This statement is correct because sometimes the test is repeated in the doctor's office at the 2-week check-up. The PKU test is done one to three days after birth, but it may not be accurate if the baby has not had enough protein in their diet before the test. A repeat test may be needed to confirm or rule out PKU.

Choice D reason:

This statement is incorrect because the baby must take formula or breast milk after the test is done, not before. The test measures the level of phenylalanine in the blood, which will be higher if the baby has eaten protein-rich foods. The test should be done after the baby has fasted for at least two hours.

Choice A reason:

Stop breastfeeding. This is the correct answer because newborns and infants with galactosemia cannot metabolize galactose, a sugar found in milk and lactose-containing formulas, including breast milk. Galactose can build up in their blood and cause serious complications such as liver damage, cataracts, brain damage, and even death. Therefore, the therapeutic management for this newborn is to stop breastfeeding and switch to a soy or elemental formula that contains no galactose.

Choice B reason:

Add amino acids to the breast milk. This is incorrect because adding amino acids to breast milk will not prevent the accumulation of galactose in the newborn's blood. Amino acids are the building blocks of proteins, not sugars. Adding amino acids to breast milk will not change its galactose content or help the newborn metabolize it.

Choice C reason:

Substitute a lactose-containing formula for breast milk. This is incorrect because lactose is a disaccharide composed of glucose and galactose. Lactose-containing formulas will also expose the newborn to galactose, which they cannot break down. Lactose-containing formulas should be avoided in newborns and infants with galactosemia.

Choice D reason:

Give the appropriate enzyme along with breast milk. This is incorrect because there is no enzyme therapy available for galactosemia. Galactosemia is caused by a genetic defect in one of the enzymes involved in the breakdown of galactose, such as galactose-1-phosphate uridyltransferase (GALT), galactokinase (GALK), or uridine diphosphate galactose-4-epimerase (GALE). Giving an enzyme along with breast milk will not correct this defect or prevent the harmful effects of galactose accumulation.