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Pompe’s Disease

  1. Deficient activity of lysosomal acid alfa – glucosidase( acid maltase)
  2. Infants appear normal at birth.
  3. Generalized muscle weakness with floppy baby appearance, feeding difficulties, macroglossia, hepatomegaly and heart failure due to a progressively hypertrophic cardiomyopathy.
  4. ECG findings include high voltage QRS complex and a shortened P-R interval. Q
  5. Elevated levels of screen creative kinase, aspartase aminotransferase and lactate dehydrogenase.
  6. Muscle biopsy shows the presence of vacuoles that stain positively for glycogen.

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