Q:

A -9-month- old boy presented with persistent head lag, rapid breathing, difficult feeding, and hepatomegaly. Chest X- ray showed cardiomegaly

Anwaar
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2022-09-11
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A 9-month- old boy presented with persistent head lag, rapid breathing, difficult feeding, and hepatomegaly. Chest X- ray showed cardiomegaly .
Of the following, the MOST appropriate confirmatory test is

  1. liver biopsy
  2. muscle biopsy
  3. electrocardiography
  4. serum creatine phosphokinase
  5. enzyme assay in dried blood spots
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Anwaar
2022-09-11
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(E). The confirmatory step for a diagnosis of Pompe disease is enzyme assay demonstrating deficient acid a-glucosidase. The enzyme assay is usually done in dried blood spots, leukocytes, blood mononuclear cells, muscle, and cultured skin fibroblasts

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