A glycogen storage disease (GSD) results from the absence of enzymes that ultimately convert glycogen compounds to glucose. Enzyme deficiency results in glycogen accumulation in tissues.In many cases, the defect has systemic consequences, but, in some cases, the defect is limited to specific tissues.onversion generally is a one-way reaction from glycogen to glucose-1,6-phosphate. The enzyme is found in all tissues. Disease results from a pan-deficiency of the enzyme (GSD IIIa) or muscle-specific retention of glycogen debranching enzyme (GSD IIIb). The condition is autosomal recessive.
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