ATI RN
Endocrine System Pediatric Questions
Question 1 of 5
Cystinuria is a disorder of renal tubular transport of the following amino acids EXCEPT
Correct Answer: C
Rationale: Cystinuria impairs reabsorption of cystine, lysine, arginine, and ornithine (dibasic amino acids), but tryptophan, a neutral amino acid, is not affected.
Question 2 of 5
In Edwards syndrome (trisomy 18), characteristic features include
Correct Answer: B
Rationale: In Edwards syndrome, you find rocker-bottom feet, hypoplastic nails, and characteristic clenching of fists (second and fifth digits overlap third and fourth), distinguishing B as a key feature.
Question 3 of 5
Matching: For each inborn error of amino acid metabolism, select the correct urine odor - Methionine malabsorption
Correct Answer: A
Rationale: Methionine malabsorption (oasthouse syndrome) produces a cabbage-like or malty odor from unmetabolized methionine.
Question 4 of 5
Matching: Match the disease with its enzyme - β-Hexosaminidase A
Correct Answer: C
Rationale: Tay-Sachs disease is caused by β-hexosaminidase A deficiency, resulting in GM2 ganglioside buildup.
Question 5 of 5
Plasma very-long-chain fatty acids are elevated in all of the following peroxisomal disorders EXCEPT
Correct Answer: B
Rationale: Rhizomelic chondrodysplasia punctata involves plasmalogen synthesis defects, not VLCFA elevation, unlike the others.