Abstract
Pompe’s disease is an autosomal recessive disorder caused by inherited deficiency of α-1,4-glucosidase (acid maltase), a lysosomal enzyme. Patients usually die in the first year of life from cardio-respiratory failure due to massive left ventricular hypertrophy. We report a case of 3-month-old boy presented with fatal infantile onset Pompe’s disease.
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Schedule a callMore From: International Journal of Clinical Case Reports and Reviews
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