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    SubjectsPediatricsInborn Errors of Metabolism
    ClinicalPediatrics

    Inborn Errors of Metabolism

    7 MCQs in Pediatrics for NEET PG

    7 Medium
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    Sample Questions

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    A 3-year-old girl was brought by her mother with complaints of enlarged clitoris. Karyotype revealed 46XX. What is the likely cause?

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    An 8-year old child has difficulty walking and getting up from a squatting position. A muscle biopsy was done and is as shown in the image. Which of the following is true about this condition? [image]

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    An infant presents with vomiting after feeding. A Benedict’s test was performed and returned positive for a non-glucose substance. Which of the following is the most likely diagnosis?

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    A child presents with neurodegeneration and a cherry-red spot on fundus examination. Enzyme assay reveals hexosaminidase A deficiency. What is the most likely diagnosis?

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    A child presents with developmental delay and coarsefacial features. Enzyme assay reveals a deficiency of α-L-iduronidase. Which of the following substances is most likely to accumulate in this condition?

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