ATI RN
Pediatric Endocrine System Questions
Question 1 of 5
Matching: For each inborn error of amino acid metabolism, select the correct urine odor - Glutaric acidemia (type II)
Correct Answer: C
Rationale: Glutaric acidemia type II produces a sweaty feet-like odor due to accumulation of organic acids from fatty acid oxidation defects.
Question 2 of 5
Which of the following porphyrias is NOT associated with cutaneous manifestations?
Correct Answer: C
Rationale: Acute intermittent porphyria presents with neurologic symptoms (abdominal pain, neuropathy) without skin involvement, unlike the others.
Question 3 of 5
The parents of a 2-year-old boy with Tay-Sachs disease ask you about the availability of prenatal testing in their pregnancy. When counseling this couple about prenatal diagnosis, it would be most appropriate to include which one of the following statements:
Correct Answer: A
Rationale: Prenatal testing for Tay-Sachs via CVS at 10 weeks is standard and reliable, given its autosomal recessive inheritance (25% risk per pregnancy).
Question 4 of 5
Dietary restriction of phenylalanine during pregnancy to serum levels of 10 mg/dL prevents all of the following EXCEPT
Correct Answer: B
Rationale: Phenylalanine restriction prevents fetal damage (microcephaly, heart defects, retardation) but not maternal preeclampsia, a pregnancy-specific condition.
Question 5 of 5
Matching: Platelet dysfunction
Correct Answer: B
Rationale: Hermansky-Pudlak syndrome includes platelet dysfunction and bleeding tendencies.