During episodes of symptomatic hyperammonemia, all the following treatment options can be used EXCEPT

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Endocrine System in Pediatrics Questions

Question 1 of 5

During episodes of symptomatic hyperammonemia, all the following treatment options can be used EXCEPT

Correct Answer: A

Rationale: Hyperammonemia treatment includes ammonia scavengers (B), dialysis (C, D, E), but IV glucose alone doesn’t remove ammonia, though it prevents catabolism; it’s not a primary treatment here.

Question 2 of 5

Which of the following is true regarding Patau syndrome (trisomy 13)?

Correct Answer: A

Rationale: In Patau syndrome, midline facial defects such as cyclopia, cebocephaly, and cleft lip and palate are common, as are CNS anomalies like alobar holoprosencephaly, leading to severe disability and short life expectancy, making A incorrect as the true statement is its opposite.

Question 3 of 5

Matching: For each inborn error of amino acid metabolism, select the correct urine odor - Phenylketonuria

Correct Answer: B

Rationale: Phenylketonuria (PKU) results in a musty or mousy odor, often described as hoplike, due to phenylacetate accumulation.

Question 4 of 5

Matching: Match the disease with its enzyme - Sphingomyelinase

Correct Answer: D

Rationale: Niemann-Pick disease type A is due to sphingomyelinase deficiency, leading to sphingomyelin accumulation.

Question 5 of 5

Peroxisomal disorders in the neonatal period are most commonly manifested by

Correct Answer: A

Rationale: Peroxisomal disorders (e.g., Zellweger) typically present with hypotonia and seizures in neonates due to brain and nerve dysfunction.

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