ATI RN
Endocrine System Pediatrics Questions
Question 1 of 5
Matching: Match the disease with its enzyme - α-Galactosidase
Correct Answer: D
Rationale: Fabry disease is caused by α-galactosidase deficiency, leading to globotriaosylceramide accumulation.
Question 2 of 5
The mucolipidoses result from the abnormal targeting of lysosomal enzymes to the lysosome. Each statement about the mucolipidoses is correct EXCEPT
Correct Answer: D
Rationale: Not all mucolipidoses (e.g., type III) lead to early childhood death; severity varies.
Question 3 of 5
Appropriate treatment of the child in the previous question before the onset of serious symptoms is helpful in preventing severe retardation. Overtreatment may result in
Correct Answer: D
Rationale: Over-restricting phenylalanine in PKU can lead to protein deficiency, causing anorexia, lethargy, and rash.
Question 4 of 5
In general, albinism is characterized by all of the following EXCEPT
Correct Answer: D
Rationale: Nail hypoplasia is not a feature of albinism; others relate to melanin deficiency.
Question 5 of 5
A 4-year-old blue-eyed white female manifests a malar flush, mild mental retardation, subluxation of the ocular lens, iridodonesis, and Marfanoid-like features (tall, thin, arachnodactyly). The most likely diagnosis is
Correct Answer: D
Rationale: Homocystinuria mimics Marfan syndrome with lens dislocation and retardation due to homocysteine accumulation.