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Pompe disease is a progressive, multisystemic, debilitating, often fatal neuromuscular disease caused by a pathogenic
variant in the acid α-glucosidase gene leading to GAA enzyme deficiency and lysosomal glycogen accumulation. Objectives: This
study aimed to determine the prevalence of early onset Pompe disease in Basra, using the dried blood spot (DBS) as a screening
tool, also to determine the spectrum of presentation. Materials and Methods: In a prospective study conducted in Basrah, Iraq, from
October 2021 to September 2023, all infants with a family member diagnosed as a case of Pompe disease, hypotonia, or ventricular
hypertrophy referred to the pediatric cardiology unit in Basra Cardiac Hospital were subjected to echocardiographic e
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