ATI RN
Pediatric Endocrine Exam Questions Questions
Question 1 of 5
Complications of tyrosinemia include all of the following EXCEPT
Correct Answer: A
Rationale: Cataracts are not a feature of tyrosinemia; others (renal, liver, nerve issues) are common.
Question 2 of 5
The plasma amino acids in the patient in the previous two questions reveal a marked elevation of leucine, isoleucine, and valine. The most likely diagnosis is
Correct Answer: A
Rationale: Maple syrup urine disease (MSUD) causes elevated branched-chain amino acids (leucine, isoleucine, valine).
Question 3 of 5
A 10-day-old manifests profound coma one day after an illness characterized by emesis, poor oral intake, and hypotonia. Laboratory findings reveal 4+ ketonuria, an arterial blood gas of 6.9, PCO2 19, PO2 95, an anion gap of 37, and an absolute neutrophil count of 400. The most likely diagnosis is
Correct Answer: C
Rationale: Methylmalonic acidemia causes severe acidosis, ketonuria, and neutropenia during metabolic crises.
Question 4 of 5
During acute metabolic decompensation, all of the following are appropriate therapy EXCEPT
Correct Answer: B
Rationale: Albumin infusion is not standard for urea cycle defect crises; others help remove ammonia or provide energy.
Question 5 of 5
Matching: Disorder of peroxisomal import
Correct Answer: B
Rationale: Zellweger syndrome involves peroxisomal import defects.