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ATI RN · Obstetrics and Pediatrics · Endocrine System Pediatrics

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Showing all 5 practice questions with expert explanatory rationales.

Question 1 of 5

The definitive diagnosis of type I glycogen storage disease GSD is by

A. EMG
B. liver biopsy
C. muscle biopsy
D. analysis of gene-based mutation

Expert Explanatory Rationale

Correct Answer: liver biopsy

Question 2 of 5

Matching: Match the disease with its enzyme - α-Galactosidase

A. Hurler
B. Gaucher
C. Tay-Sachs
D. Fabry

Expert Explanatory Rationale

Correct Answer: Fabry

Question 3 of 5

Lipidoses affect many solid organs, cherry-red spots is seen in

A. Glucosylceramide lipidosis (Gaucher 1)
B. Glucosylceramide lipidosis 2 (Gaucher 2)
C. Sphingomyelin lipidosis B (Niemann-Pick B)
D. GM2 gangliosidosis (Tay-Sachs)

Expert Explanatory Rationale

Correct Answer: GM2 gangliosidosis (Tay-Sachs)

Question 4 of 5

Retardation of osseous development in congenitally hypothyroid infants can be shown radiographically at birth in approximately

A. 20%
B. 40%
C. 60%
D. 80%

Expert Explanatory Rationale

Correct Answer: 60%

Question 5 of 5

During a routine clinical visit, a healthy asymptomatic 6-year-old boy is found to have fasting blood glucose of 110 mg/dL; he has normal oral glucose tolerance test, no glycosuria, and HgbA1c of 6.4%. This child is MOST likely considered to have

A. impaired fasting glucose
B. impaired glucose tolerance
C. sporadic hyperglycemia
D. type 1 diabetes mellitus

Expert Explanatory Rationale

Correct Answer: impaired fasting glucose

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