A RARE CASE OF POMPES DISEASE PRESENTED AS FLOPPY INFANT
Abstract
Glycogen storage disease (GSD) are due to mutation of genes that codes for proteins involved in glycogen synthesis.Pompes disease ,also referred as acid maltase deficiency or glycogen storage disease type is an autosomal recessive disorder caused by a deficiencyof lysosomal enzyme acid glucosidase(GAA).1 It was the first recognised lysosomal storage disease and is the only glycogen storage disease that is also a lysosomal storage disease .In pompes disease,lysosomal glycogen accumulates in many tissues , with skeletal ,cardiac and smooth muscles prominently involved2 3.We report a case of pompes disease ,occured in 11 months old male child presented with floppiness of limbs and motor devel opmental delay since 5 months of age.This was one of the very rare cases reported in India.
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