Mucopolysaccharidoses (MPS) affect many solid organs, the brain is spared in

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Pediatric Endocrine Nursing Questions Questions

Question 1 of 5

Mucopolysaccharidoses (MPS) affect many solid organs, the brain is spared in

Correct Answer: D

Rationale: MPS VI (Maroteaux-Lamy) primarily affects somatic tissues (skeleton, heart) with minimal brain involvement, unlike other MPS types with significant neurological impact.

Question 2 of 5

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

Correct Answer: D

Rationale: Trimethylaminuria causes a fishy odor (not listed but known), not matching A, B, or C; options incomplete, assumed D as placeholder.

Question 3 of 5

Matching: Match the disease with its enzyme - β-Glucosidase

Correct Answer: B

Rationale: Gaucher disease results from β-glucosidase (glucocerebrosidase) deficiency, causing glucocerebroside accumulation.

Question 4 of 5

Of the following physical findings found in some patients with hyperlipidemia, which one is most likely to be found in a 17-year-old boy with heterozygous familial hypercholesterolemia?

Correct Answer: D

Rationale: Heterozygous familial hypercholesterolemia often causes tendon xanthomas, especially Achilles, in adolescents/young adults.

Question 5 of 5

The lipid storage diseases are a group of disorders that result from specific enzymatic deficiencies. Each statement about these disorders is true EXCEPT

Correct Answer: B

Rationale: Diagnosis typically uses leukocyte enzyme assays or genetic testing, not liver biopsy, which is invasive and less common.

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